GENETIC TESTING REQUISITION

1-844-363-4357· Ask.Genetics@LifeLabs.com Schillingallee 68 · 18057 Rostock Germany Attention Patient: Please visit your nearest LifeLabs or CML Healthcare Patient Service Centre for sample collection

CONTRACT # LL: K012-01/ CML: CEN

Report to Physician Billing # LifeLabs Demographic Label Ordering Physician Name

Physician Signature:

Ordering Physician Address: Tel: Fax: Address & Contact Info:

Copy to (name & contact info): Name: Contact:

Bill to Contract # K012-01 (patient does not pay at time of collection) Patient Gender: (M/F)

Patient Name (Last, First): Patient DOB: (YYYY/MM/DD)

Patient Address: Patient Health Card: Patient Telephone:

Please ship all NON-PRENATAL samples to: LifeLabs · Attn CDS Department • 100 International Boulevard• Toronto ON• M9W6J6 TEST REQUESTED LL TR # / CML TC# □ Genetic Test - Blood Sample 2 x 4mL EDTA 4005 □ Genetic Test (Pediatric) - Blood Sample 1 x 2mL EDTA 4008 □ Genetic Test - Other Sample Type 4014 PRENATAL SAMPLES: Please ship directly to CENTOGENE.

Date Blood Collected (YYYY/MM/DD): ______Time Blood Collected (HH:MM)) :______Collector Name: - ______

GENETIC TESTING CONSENT I understand that a DNA specimen will be sent to LifeLabs for genetic testing. My physician has told me about the condition(s) being tested and its genetic basis. I am aware that correct information about the relationships between my family members is important. I agree that my specimen and personal health information may be sent to Centogene AG at their lab in Germany (address below). To ensure accurate testing, I agree that the results of any genetic testing that I have had previously completed by Centogene AG may be shared with LifeLabs. I understand that LifeLabs will contact me for a new specimen if a test result cannot be provided from the original specimen. I agree that a copy of my results will be sent to my ordering physician. I further agree that for any test(s) performed by Centogene AG, a copy of my results will also be sent to LifeLabs. I understand that once the requested test(s) has/have been completed, any remaining sample will be stored at the testing laboratory.

OPTIONAL CONSENT : Please Initial where appropriate

_____ I agree that my de-identified sample may be used for product development or research purposes. I understand that I will not receive any royalties, resultant payments, benefits or rights to products or discoveries. _____ I do not want my remaining sample to be stored. Please destroy any remaining sample once the final report has been issued. _____ I have had genetic testing completed in the past by the following laboratories: ______I agree that Centogene AG and LifeLabs may obtain a copy of these genetic test results from the testing laboratory.

Patient/Substitute Decision Maker: Signature: ______; Date: ______

Printed name: ______; Relationship to person being tested: ______

OR: I certify that verbal consent was obtained from the patient /substitute decision maker for the requested genetic testing

Signature: ______; Date: ______

** LIFELABS/CML STAFF: PHOTOCOPY REQUISITION AND INCLUDE 1 COPY WITH SAMPLES**

Page 1/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION

1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Sample Type: □ *Blood (EDTA: 5mL for single gene, 10mL for panel)

□ DNA (single gene:1-10ug, panel 10-100ug)

□ *Filter card (1 card/30 exons: Available by request)

□ Saliva (Oragene OG-510: Available by request)

□ Fibroblast/Skin Biopsy (0.5cm2)

□ Cultured cells (1 flask, min 25cm2, 80-90% confluent)

□ **Amniotic fluid (10mL)

□ **Chorionic Villus (10 villi, cleaned) □ Other: ______

* Exact amount depends on size of panel, see www.centogene.com ** Please contact us prior to sending cells

Billing Status: □ Ministry of Health Approved (Approval letter attached) □ Ministry of Health Approval Pending

□ Institution (Complete information below) □ Private Pay (Complete information below)

Institution Billing ONLY: Institution Name: ______Contact Name: ______

Address:

Phone: ( ) - Fax: ( ) - Email: ______Private Pay ONLY: Credit Card Type: □ MasterCard □ Visa

Card Number______Exp Date(MM/YY)______

Name (as it appears on credit card)______I understand that my credit card will be charged for the full amount of testing not paid for by my provincial health plan

Cardholder Signature: ______Date (DD/MM/YYYY)______

Patient Information: Gender: □M □ F Ethnicity: ______Additional patient medical information:

Relevant Family history:

Have other family members submitted samples to Centogene for analysis? □Y □ N If yes, Name:______Relationship to patient ______

DOB (YYYY/MM/DD):______

Familial Mutation Testing Gene:______Mutation (HGVS):______□Familial Report attached

Testing Instructions: (ex: Reflex order) ** LIFELABS/CML STAFF: PHOTOCOPY REQUISITION AND INCLUDE 1 COPY WITH SAMPLES · PLEASE SHIP SAMPLES TO LIFELABS Shipping Address: LifeLabs Medical Laboratory Services• Attn: CDS Department 100 International Boulevard• Toronto ON• M9W6J6 *

Page 2/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 1. CARDIOVASCULAR DISORDERS 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

` Please indicate requests for Hot Spot (H), Exon (E), Sequencing (S), Repeat Expansion (R) and/or Deletion/Duplication (D) analysis

Arrhythmias

NGS Panels: (AKAP9,ANK2,CACNA1C,CACNB2,CASQ2,CAV3,DSC2,DSG2,DSP,GPD1L,JUP,KCNA5,KCNE1,KCNE2,KCNE3,KCNH2,KCNJ2,KCNQ1, D S Arrhythmia, hereditary panel NPPA,PKP2,PLN,RYR2,SCN1B,SCN3B,SCN4B,SCN5A,SNTA1,TGFB3,TMEM43) D S Brugada syndrome panel (CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B,SCN3B, SCN5A, SLMAP) Catecholaminergic polymorphic (RYR2, CASQ2, KCNJ2) D S ventricular tachycardia panel D S Long QT syndrome panel (AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1) Single genes:

H D S Atrial fibrillation type 3 (KCNQ1) H D S Long QT syndrome type 1 (KCNQ1) D S Atrial fibrillation type 4 (KCNE2) D S Long QT syndrome type 2 (KCNH2) D S Atrial fibrillation type 6 (NPPA) H D S Long QT syndrome type 3 (SCN5A) D S Atrial fibrillation type 7 (KCNA5) D S Long QT syndrome type 4 (ANK2) H D S Atrial fibrillation type 10 (SCN5A) E D S Long QT syndrome type 5 (KCNE1) D S Atrial fibrillation type 11 (GJA5) D S Long QT syndrome type 6 (KCNE2) H D S Brugada syndrome type 1 (SCN5A) D S Long QT syndrome type 8 (CACNA1C) D S Brugada syndrome type 2 (GPD1L) H D S Long QT syndrome type 9 (CAV3) D S Brugada syndrome type 3 (CACNA1C) D S Long QT syndrome type 10 (SCN4B) D S Brugada syndrome type 4 (CACNB2) D S Long QT syndrome type 11 (AKAP9) D S Brugada syndrome type 5 (SCN1B) D S Long QT syndrome type 12 (SNTA1) D S Brugada syndrome type 6 (KCNE3) D S Long QT syndrome type 13 (KCNJ5) D S Brugada syndrome type 7 (SCN3B) D S Progressive familial heart block (TRPM4) D S Brugada syndrome type 8 (HCN4) D S Short QT syndrome type 1 (KCNH2) H D S Brugada syndrome type 9 (SLMAP) H D S Short QT syndrome type 2 (KCNQ1) H D S Catecholaminergic polymorphic Ventricular tachycardia type 1 (RYR2) D S Short QT syndrome type 3 (KCNJ2) H D S Catecholaminergic polymorphic Ventricular tachycardia type 2 (CASQ2) H D S Sick sinus syndrome type 1 (SCN5A) D S Catecholaminergic polymorphic Ventricular tachycardia type 3 (CALM2) H D S Sick sinus syndrome type 3 (MYH6) D S Catecholaminergic polymorphic Ventricular tachycardia type 4 (CALM1) H D S Sudden infant death syndrome (SCN5A) H D S Heart block type 1 (SCN5A) H D S Ventricular fibrillation, paroxysmal familial type 1 (SCN5A) H D S Jervell and Lange-Nielsen syndrome type 1 (KCNQ1) D S Ventricular tachycardia, familial (GNAI2) E D S Jervell and Lange-Nielsen syndrome type 2 (KCNE1) D S Wolff -Parkinson-White syndrome (PRKAG2)

Cardiomyopathies

NGS Panels: Arrhythmogenic right ventricular (DSP, DSG2, DSC2, JUP, PKP2, RYR2, TMEM43) D S cardiomyopathy panel Cardiomyopathy dilated panel (ABCC9, ACTC1, ACTN2, BAG3, CSRP3, DES, DMD, DSG2, EYA4, FKTN, GATAD1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MT- D S ND1, MT-ND5, MT-ND6, MT-TD, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, MT-TS1, MT-TS2, NEXN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL) (ACTC1, CALR3, CAV3, CSRP3, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PLN, PRKAG2, D S Cardiomyopathy hypertrophic panel SLC25A4, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL) Single genes:

D S Arrhythmogenic right ventricular cardiomyopathy type 1 (TGFB3) H D S Cardiomyopathy, dilated type 1D (TNNT2) D S Arrhythmogenic right ventricular cardiomyopathy type 5 (TMEM43) D S Cardiomyopathy, dilated type 1DD (RBM20) D S Arrhythmogenic right ventricular cardiomyopathy type 8 (DSP) H D S Cardiomyopathy, dilated type 1E (SCN5A) D S Arrhythmogenic right ventricular cardiomyopathy type 9 (PKP2) H D S Cardiomyopathy, dilated type 1EE (MYH6) D S Arrhythmogenic right ventricular cardiomyopathy type 10 (DSG2) E D Cardiomyopathy, dilated type 1G (TTN) D S Arrhythmogenic right ventricular cardiomyopathy type 11 (DSC2) D S Cardiomyopathy, dilated type 1HH (BAG3) D S Arrhythmogenic right ventricular cardiomyopathy type 12 (JUP) H D S Cardiomyopathy, dilated type 1I (DES) D S Barth syndrome (TAZ) D S Cardiomyopathy, dilated type 1L (SGCD) H D S Cardiomyopathy, dilated (MYBPC3) D S Cardiomyopathy, dilated type 1LL (PRDM16) H D S Cardiomyopathy, dilated type 1A (LMNA) D S Cardiomyopathy, dilated type 1M (CSRP3) D S Cardiomyopathy, dilated type 1AA (ACTN2) D S Cardiomyopathy, dilated type 1N (TCAP) D S Cardiomyopathy, dilated type 1C (LDB3) D S Cardiomyopathy, dilated type 1O (ABCC9) D S Cardiomyopathy, dilated type 1CC (NEXN)

Page 3/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 1. CARDIOVASCULAR DISORDERS 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): ` Cardiomyopathies (continued)

D S Cardiomyopathy, dilated type 1P (PLN) H D S Cardiomyopathy, familial hypertrophic type 10 (MYL2) H D S Cardiomyopathy, dilated type 1R (ACTC1) H D S Cardiomyopathy, familial hypertrophic type 11 (ACTC1) H D S Cardiomyopathy, dilated type 1S (MYH7) D S Cardiomyopathy, familial hypertrophic type 12 (CSRP3) D S Cardiomyopathy, dilated type 1T (TMPO) D S Cardiomyopathy, familial hypertrophic type 16 (MYOZ2) H D S Cardiomyopathy, dilated type 1U (PSEN1) D S Cardiomyopathy, familial hypertrophic type 17 (JPH2) D S Cardiomyopathy, dilated type 1V (PSEN2) D S Cardiomyopathy, familial hypertrophic type 19 (CALR3) D S Cardiomyopathy, dilated type 1W (VCL) H D S Cardiomyopathy, familial restrictive type 1 (TNNI3) D S Cardiomyopathy, dilated type 1X (FKTN) E D S Cardiomyopathy, fatal (MT-TI) H D S Cardiomyopathy, dilated type 1Y (TPM1) D S Cardiomyopathy, hypertrophic, midventricular, digenic (MYLK2) H D S Cardiomyopathy, dilated type 1Z (TNNC1) E D S Cardiomyopathy, idiopathic dilated, mitochondrial (MT-TH) H D S Cardiomyopathy, dilated type 2A (TNNI3) H D S Fabry disease (GLA) D S Cardiomyopathy, dilated type 2B (GATAD1) D S Danon disease (LAMP2) D S Cardiomyopathy, dilated type 3B (DMD) H D S McKusick-Kaufman-Syndrome (MKK) D S Cardiomyopathy, dilated type J (EYA4) E D S MELAS syndrome (MT-TF) D S Cardiomyopathy, dilated with woolly hair and keratoderma (DSP) E D S MELAS syndrome (MT-TL1) H D S Cardiomyopathy, familial hypertrophic (CAV3) E D S MERRF syndrome (MT-TK) H D S Cardiomyopathy, familial hypertrophic type 1 (MYH7) E D S MERRF/MELAS overlap syndrome (MT-TS1) H D S Cardiomyopathy, familial hypertrophic type 2 (TNNT2) E D S MERRF/MELAS overlap syndrome (MT-TS2) H D S Cardiomyopathy, familial hypertrophic type 3 (TPM1) D S Mitochondrial myopathy and sideroblastic anemia type 1 (PUS1) H D S Cardiomyopathy, familial hypertrophic type 4 (MYBPC3) E D S Mitochondrial myopathy, isolated (MT-TD) D S Cardiomyopathy, familial hypertrophic type 6 (PRKAG2) E D S Myopathy (MT-TQ) H D S Cardiomyopathy, familial hypertrophic type 7 (TNNI3) D S Myopathy, lactic acidosis, and sideroblastic anemia type 2 (YARS2) D S Cardiomyopathy, familial hypertrophic type 8 (MYL3) D S Myopathy, mitochondrial (MT-TM) E D Cardiomyopathy, familial hypertrophic type 9 (TTN) D S Sengers syndrome (AGK)

Vascular NGS Panels: (MYH11, ACTA2, TGFBR1, TGFBR2, FBN1, COL3A1, SMAD3, CBS, FBN2, SLC2A10, MYLK, TGFB2) D S Aortic aneurysm, hereditary thoracic panel (COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, TNXB) D S Ehlers-Danlos syndrome panel Marfan syndrome and related disorders panel (ACTA2,COL3A1,COL5A1,COL5A2,FBN1,FBN2,MYH11,SLC2A10,SMAD3,TGFBR1, TGFBR2) D S Single genes: D S Angioedema, hereditary (SERPING1) D S Ehlers-Danlos syndrome type 1/2 (COL5A2) D S Antithrombin III deficiency (SERPINC1) H D S Ehlers-Danlos syndrome type 3 (COL3A1) D S Aortic Aneurysm, familial thoracic type 1 (MYH11) H D S Ehlers-Danlos syndrome type 4 (COL3A1) H D S Aortic Aneurysm, familial thoracic type 1 (TGFBR1) D S Ehlers-Danlos syndrome type 4 (COL5A1) D S Aortic Aneurysm, familial thoracic type 1 (TGFBR2) H D S Fabry disease (GLA) D S Aortic Aneurysm, familial thoracic type 1 (FBN1) D S Glycoprotein Ia C807T polymorphism (ITGA2) D S Aortic aneurysm, familial thoracic type 6 (ACTA2) H D S Homocystinuria (CBS) D S Aortic Aneurysm, familial thoracic type 7 (MYLK) D S Homocystinuria (MTHFR) D S Aortic valve disease type 1 (NOTCH1) D S Homocystinuria, B12-responsive (MTR) D S Aortic valve disease type 2 (SMAD6) D S Homocystinuria-megaloblastic anemia, cbl E type (MTRR) D S Arterial calcification type 1, generalized, infantile (ENPP1) D S Hypertension, ADD2-related(ADD2) D S Arterial Hypertension, idiopathic pulmonary (BMPR1B) D S Hypertension early onset (NR3C2) D S Arterial Tortuosity Syndrome (SLC2A10) D S Loeys-Dietz syndrome type 1C (SMAD3) D S Bernard Soulier syndrome type A1 (GP1BA) D S Loeys-Dietz syndrome type 2A (TGFBR1) D S Bernard Soulier syndrome type A2 (GP1BA) D S Loeys-Dietz syndrome type 2B (TGFBR2) D S Bernard Soulier syndrome type B (GP1BB) D S Loeys-Dietz syndrome type 4 (TGFB2) D S Bernard Soulier syndrome type C (GP9) D S Hypertension early onset (NR3C2) D S Bicuspid aortic valve (TIMP1) D S Loeys-Dietz syndrome type 1C (SMAD3) H D S CADASIL (NOTCH3) D S Loeys-Dietz syndrome type 2A (TGFBR1) D S Capillary malformations, congenital (GNAQ) D S Loeys-Dietz syndrome type 2B (TGFBR2) D S Capillary malformations-arteriovenous malformation (GNAQ) D S Loeys-Dietz syndrome type 4 (TGFB2) D S CARASIL (HTRA1) H D S Marfan syndrome (FBN1) D S Cerebral cavernous malformations type 1 (KRIT1) D S Mitochondrial myopathy and sideroblastic anemia 1 (PUS1) D S Cerebral cavernous malformations type 2 ((CCM2) H D S Moyamoya disease type 2 (RNF213) D S Cerebral cavernous malformations type 3 (PDCD10) D S Myoglobinuria acute recurrent (LPIN1) Coronary artery disease in familial hypercholesterolemia, protection against Myopathy with lactic acidosis hereditary (ISCU) D S (RASA1) D S D S Ehlers-Danlos syndrome type 1/2 (COL5A1)

Page 4/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 1. CARDIOVASCULAR DISORDERS 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): ` Vascular (continued)

D S Orthostatic intolerance (SLC6A2) D S Protein S Deficiency, AD (PROS1) D S Parkes Weber syndrome (RASA1) D S Pseudohypoaldosteronism type 2D (KLHL3) D S Plasminogen activator inhibitor type 1 (SERPINE1) D S Pseudohypoaldosteronism type 2E (CUL3) D S Polyarteritis nodosa, childhood-onset (CECR1) D S Sturge-Weber syndrome (GNAQ) D S Protein C Deficiency, AD (PROC) D S Supravalvar aortic stenosis (ELN)

Other

NGS Panels:

D S Central hypoventilation syndrome panel (RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2) D S Heterotaxy panel ( ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, NKX2-5, NODAL, ZIC3) D S Noonan – Cardiofaciocutaneous syndrome panel (BRAF, CBL, HRAS, MAP2K1, KRAS, MAP2K2, NF1, NRAS, RAF1, PTPN11, SHOC2, SOS1, SPRED1) Single genes:

D S Alveolar capillary dysplasia with misalignment of pulmonary veins (FOXF1) D S CHARGE syndrome (CHD7) D S Atrial septal defect type 2 (GATA4) D S Coarctation of the aorta (MCTP2) H D S Atrial septal defect type 3 (MYH6) D S Costello syndrome (HRAS) D S Atrial septal defect type 9 (GATA6) D S Diaphragmatic hernia type 3 (ZFPM2) D S Atrial septal defect with atrioventricular conduction defects (NKX2-5) D S DiGeorge (22q11.2 deletion) syndrome (TBX1) D S Atrioventricular septal defect, partial with heterotaxy syndrome (CRELD1) D S Dopamine beta-hydroxylase (DBH) deficiency (DBH) D S Atrioventricular septal defect type 5 (GATA6) D S Heterotaxy, visceral type 1 (ZIC3) D S Cardiac defects, CNOT3 related (CNOT3) D S Heterotaxy, visceral type 2 (CFC1) D S Cardiac valvular dysplasia, X-linked (FLNA) D S Heterotaxy, visceral type 4 (ACVR2B) D S Cardioencephalomyopathy, fatal infantile: cytochrome c oxidase def'cy (SCO2) D S Heterotaxy, visceral type 5 (NODAL) D S Cardiofaciocutaneous syndrome (KRAS) H D S LEOPARD syndrome 3 (BRAF) H D S Cardiofaciocutaneous syndrome (BRAF) D S Noonan syndrome like (SHOC2) D S Cardiofaciocutaneous syndrome (MAP2K1) D S Noonan syndrome type 1 (PTPN11) D S Cardiofaciocutaneous syndrome (MAP2K2) D S Noonan syndrome type 3 (KRAS) D S Congenital heart disease and transposition of the great arteries (FOXH1) D S Noonan syndrome type 4 (SOS1) H D S Central hypoventilation syndrome, congenital (RET) D S Noonan syndrome type 5 (RAF1) D S Central hypoventilation syndrome, congenital (GDNF) H D S Noonan syndrome type 6 (NRAS) D S Central hypoventilation syndrome, congenital (EDN3) H D S Noonan syndrome type 7 (BRAF) Noonan syndrome-like disorder with or without juvenile meylomonocytic D S Central hypoventilation syndrome, congenital (BDNF) D S leukemia (CBL) D S Central hypoventilation syndrome, congenital (ASCL1) D S Pancreatic agenesis and congenital heart defects (GATA6) D S Central hypoventilation syndrome, congenital (PHOX2A) D S Pulmonary fibrosis, idiopathic (SFTPA1) D S Central hypoventilation syndrome, congenital (ZEB2) D S Pulmonary newborn hypertension (CRHR1) D S Central hypoventilation syndrome, congenital (GFRA1) D S Tetralogy of Fallot (ALDH1A2) D S Central hypoventilation syndrome, congenital (ECE1) D S Tetralogy of Fallot (GATA6) H D S Central hypoventilation syndrome, congenital (MECP2) D S Tetralogy of Fallot ( ZFPM2) R S Central hypoventilation syndrome with or without Hirschsprung disease (PHOX2B) D S Transposition of great arteries, dextro-looped 3 (GDF1)

Page 5/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 2. ENDOCRINE, DIGESTION, UROGENITAL 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

` Please indicate requests for Hot Spot (H), Sequencing (S), Repeat Expansion (R) and/or Deletion/Duplication (D) analysis Endocrine Disorders

NGS Panels:

D S Diabetes neonatal panel (ABCC8, FOXP3, G6PC2, GCK GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1)

D S Kallmann syndrome panel (CHD7, FGFR1, FGF8, GNRHR, GNRH1, KAL1, KISS1R, PROK2, PROKR2, SEMA3A, TACR3) D S MODY panel (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, NKX2-2, PAX4, PDX1, RFX6, ZFP57) Single genes:

D S 17-beta hydroxysteroid dehydrogenase X deficiency (HSD17B10) D S Kallmann syndrome, SEMA3A related (SEMA3A) D S 3-beta-hydroxysteroid dehydrogenase deficiency type 2 (HSD3B2) D S Laron syndrome (GHR) H D S Achalasia addisonianism alacrimia syndrome (AAAS) D S Leydig cell adenoma (LHCGR) D S Adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2) D S Lipoid congenital adrenal hyperplasia (STAR) D S Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (POR) D S Multiple endocrine neoplasia type 1 (MEN1) D S Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency (CYP11B1) D S Maturity-onset diabetes of the young NKX2-2 related (NKX2-2) D S Adrenal hypoplasia (NR0B1) D S Maturity-onset diabetes of the young RFX6 related (RFX6) Adrenal insufficiency, congenital, with 46XY sex reversal, partial/complete D S H D S (CYP11A1) Maturity-onset diabetes of the young type 1 (HNF4A) R S Androgen insensitivity (AR) D S Maturity-onset diabetes of the young type 2 (GCK) D S Diabetes insipidus, nephrogenic, autosomal (AQP2) D S Maturity-onset diabetes of the young type 3 (HNF1A) D S Diabetes insipidus nephrogenic X-Linked (AVPR2) D S Maturity-onset diabetes of the young type 4 (PDX1) D S Diabetes mellitus insulin-resistant with acanthosis nigricans (INSR) D S Maturity-onset diabetes of the young type 5 (HNF1B) D S Diabetes mellitus neonatal (GLIS3) D S Maturity-onset diabetes of the young type 6 (NEUROD1) H D S Diabetes mellitus noninsulin-dependent (KCNJ11) D S Maturity-onset diabetes of the young type 7 (KLF11) D S Diabetes mellitus permanent neonatal (G6PC2) D S Maturity-onset diabetes of the young type 8 (CEL) D S Diabetes mellitus permanent neonatal (NEUROG3) D S Maturity-onset diabetes of the young type 9 (PAX4) H D S Diabetes mellitus type 1 (INS) H D S Maturity-onset diabetes of the young type 10 (INS) D S DiGeorge syndrome (TBX1) H D S Maturity-onset diabetes of the young type 11 (BLK) D S Glycine encephalopathy (AMT) D S Maturity-onset diabetes of the young ZFP57 related (ZFP57) D S Glycine encephalopathy (GLDC) D S Microvascular complications of diabetes 1 (VEGFA) D S Growth hormone deficiency (GH1) H D S Multiple endocrine neoplasia type 2A (RET) D S Growth hormone deficiency (GHRHR) H D S Multiple endocrine neoplasia type 2B (RET) D S Hyperaldosteronism type 3 (KCNJ5) D S Obesity (MC4R) D S Hypoaldosteronism congenital due to CMO I deficiency (CYP11B2) D S Obesity due to leptin deficiency (LEP) D S Hypogonadotropic hypogonadism (KISS1) D S Obesity with adrenal insufficiency and red hair (POMC) D S Hypogonadotropic hypogonadism (KISS1R) D S Obesity with impaired prohormone processing (PCSK1) D S Hypogonadotropic hypogonadism (LHB) D S Obesity, early-onset, susceptibility to (POMC) D S Hypogonadotropic hypogonadism (NSMF) D S Panhypopituitarism, X-linked (SOX3) D S Hypogonadotropic hypogonadism 7 with or without anosmia (GNRHR) D S Pendred syndrome (SLC26A4) D S Hypogonadotropic hypogonadism type 10 with or without anosmia (TAC3) D S Pituitary adenoma, growth hormone secreting (GNAS) D S Hypogonadotropic hypogonadism 11 with or without anosmia (TACR3) D S Pituitary adenoma, growth hormone-secreting (AIP) D S Hypogonadotropic hypogonadism 12 with or without anosmia (GNRH1) D S Pituitary hormone deficiency type 1 (POU1F1) D S Hypogonadtropic hypogonadism type 14 (WDR11) D S Pituitary hormone deficiency type 2 (PROP1) Hypogonadism, alopecia, Diabetes mellitus, mental retardation and extrapyramidal D S D S syndrome (DCAF17) Pituitary hormone deficiency, combined type 3 (LHX3) D S Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE) D S Pituitary hormone deficiency, combined type 4 (LHX4) D S Hypophosphatemic rickets, autosomal dominant (FGF23) D S Polycystic ovary syndrome type 1 (SULT2A1) D S Hypophosphatemic rickets, autosomal recessive type 1 (DMP1) D S Polycystic ovary syndrome type 1 (SULT2B1) D S Hypophosphatemic rickets, autosomal recessive type 2 (ENPP1) R S Premature ovarian failure type 1 (FMR1) D S Hypophosphatemic rickets, X-linked (PHEX) D S Pseudohypoaldosteronism, type 1, autosomal dominant (NR3C2) D S Hypothyroidism congenital nongoitrous type 1 (TSHR) D S Pseudohypoaldosteronism, type 1, autosomal recessive (SCNN1A) D S Hypothyroidism congenital nongoitrous type 2 (PAX8) D S Pseudohypoaldosteronism, type 1, autosomal recessive (SCNN1B) D S Hypothyroidism congenital nongoitrous type 4 (TSHB) D S Pseudohypoaldosteronism, type 1, autosomal recessive (SCNN1G) D S Hypothyroidism congenital nongoitrous type 6 (THRA) D S Pseudohypoaldosteronism, type 2B (WNK4) D S Hyperinsulinemic hypoglycemia type 1 (ABCC8) D S Rickets, vitamin D-resistant, type 2A (VDR) H D S Hyperinsulinemic hypoglycemia type 2 (KCNJ11) D S Rickets, vitamin D 25-hydroxylation-deficient, type 1B D S Hyperinsulinemic hypoglycemia type 3 (GCK) D S SERKAL syndrome (WNT4) D S Hyperinsulinemic hypoglycemia type 6 (GLUD1) D S Thyroid dyshormonogenesis type 1 (SLC5A5) D S IMAGe syndrome (CDKN1C) D S Thyroid dyshormonogenesis type 2A (TPO) D S Insulin-like growth factor resistance (IGF1R) D S Thyroid dyshormonogenesis type 3 (TG) D S Kallmann syndrome type 1 (KAL1) D S Thyroid dyshormonogenesis type 6 (DUOX1) D S Kallmann syndrome type 2 (FGFR1) D S Thyroid dyshormonogenesis type 6 (DUOX2) D S Kallmann syndrome type 3 (PROKR2) H D S Thyroid hormone metabolism abnormal (SECISBP2) D S Kallmann syndrome type 4 (PROK2) D S Thyroid hormone resistance (THRB) D S Kallmann syndrome type 5 (CHD7) D S Ulnar-Mammary syndrome (TBX3) D S Kallmann syndrome type 6 (FGF8) D S Wolcott-Rallison syndrome (EIF2AK3)

Page 6/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 2. ENDOCRINE, DIGESTION, UROGENITAL 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): ` Urogenital Disorders

NGS Panels:

D S Alport syndrome panel (COL4A3, COL4A4, COL4A5) D S Atypical hemolytic uremic syndrome panel (ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, THBD) (ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, HSD11B2, KCNJ1, KCNJ10, KLHL3, NR3C2, D S Bartter Syndrome panel SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A7, SLC4A1, SLC4A4, SLC4A5, WNK1, WNK4) D S Focal Glomerulonephrosis panel (ACTN4,TRPC6,WT1,NPHS1,NPHS2,CD2AP) D S Nephronophthisis panel (NPHP1, INVS, NPHP3, NPHP4, ANKS6, IQCB1, CEP164, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8, ZNF423) D S Nephrotic syndrome panel (ARHGDIA, DGKE, LAMB2, NPHS1, NPHS2, PLCE1, WT1) D S Polycystic kidney panel (BICC1, PKD1, PKD2, NOTCH2, PKHD1) Single genes:

D S Alport syndrome, autosomal recessive (COL4A3) D S Nephronophthisis type 3 (NPHP3) D S Alport syndrome, autosomal recessive (COL4A4) D S Nephronophthisis type 4 (NPHP4) D S Alport syndrome, X-Linked (COL4A5) D S Nephronophthisis type 7 (GLIS2) D S Bartter syndrome (SLC12A2) D S Nephronophthisis type 9 (NEK8) D S Bartter syndrome (SLC12A3) D S Nephronophthisis type 12 (TTC21B) D S Bartter syndrome (SLC12A5) D S Nephronophthisis type 14 (ZNF423) D S Bartter syndrome (SLC12A7) D S Nephronophthisis type 15 (CEP164) D S Bartter syndrome CASR related (CASR) D S Nephronophthisis type 16 (ANKS6) D S Bartter syndrome type 1 (SLC12A1) D S Nephronophthisis-like nephropathy 1 (XPNPEP3) D S Bartter syndrome type 2 (KCNJ1) H D S Nephrosis, Finnish type (NPHS1) D S Bartter syndrome type 3 (CLCNKB) D S Nephrotic syndrome (NPHS2) D S Bartter syndrome type 4a (BSND) H D S Nephrotic syndrome type 2 (NPHS1) D S Bartter syndrome type 4b (CLCNKA) D S Nephrotic syndrome type 3 (PLCE1) D S Branchiootorenal syndrome type 1 (EYA1) D S Nephrotic syndrome type 4 (WT1) D S Branchiootorenal syndrome type 2 (SIX5) D S Nephrotic syndrome type 5 (LAMB2) D S Denys-Drash syndrome (WT1) R S Nephrotic syndrome type 7 (DGKE) D S Faciogenital dysplasia, Aarskog-Scott (FGD1) D S Nephrotic syndrome type 8 (ARHGDIA) D S Focal segmental glomerulosclerosis type 1 (ACTN4) D S Oral-facial-digital syndrome type 1 (OFD1) D S Focal segmental glomerulosclerosis type 2 (TRPC6) D S Oral-facial-digital syndrome type 4 (TCTN3) D S Focal segmental glomerulosclerosis type 3 (CD2AP) D S Oral-facial-digital syndrome type 5 (DDX59) D S Focal segmental glomerulosclerosis type 5 (INF2) D S Pallister-Hall syndrome (GLI3) D S Genitopatellar syndrome (KAT6B) D S Papillorenal syndrome (PAX2) D S Gitelman syndrome (SLC12A3) D S Popliteal pterygium syndrome, lethal type (RIPK4) D S Glomerulosclerosis, focal segmental (ACTN4) D S Polycystic kidney disease type 1, autosomal recessive (PKHD1) D S Hemolytic uremic syndrome (CD46) H D S Polycystic kidney disease type 1, autosomal dominant (PKD1) D S Hemolytic uremic syndrome (CFB) D S Polycystic kidney disease type 2, autosomal dominant (PKD2) D S Hemolytic uremic syndrome (CFH/CFHR fusion genes) D S Renal cystic dysplasia (BICC1) D S Hemolytic uremic syndrome (CFI) D S Renal dysfunction due to SLC26A1 deficiency (SLC26A1) D S Hemolytic uremic syndrome (CFHR1) D S Renal hypoplasia, isolated (PAX2) D S Hemolytic uremic syndrome (CFHR2) D S Renal tubular acidosis (SLC4A5) D S Hemolytic uremic syndrome (CFHR3) D S Renal tubular acidosis with deafness (ATP6V1B1) D S Hemolytic uremic syndrome (CFHR4) D S Renal tubular acidosis, distal, autosomal recessive (ATP6V0A4) D S Hemolytic uremic syndrome (CFHR5) D S Renal tubular acidosis, proximal, with ocular abnormalities (SLC4A4) D S Hemolytic uremic syndrome (THBD) R S Renal tubular dysgenesis (REN) D S Interstitial nephritis karyomegalic (FAN1) D S Renal tubular dysgenesis (ACE) D S Liddle syndrome (SCNN1B) D S Renal tubular dysgenesis (AGT) D S Liddle syndrome (SCNN1G) D S SERKAL syndrome (WNT4) H D S Lipoprotein glomerulopathy (APOE) D S Toe syndactyly, telecanthus, and anogenital andrenal malformations (FAM58A) D S Medullary cystic kidney disease type 2 (UMOD) D S Townes-Brocks syndrome (SALL1) D S Menkes disease (ATP7A) D S Townes-Brocks syndrome (SALL4) D S Nephrogenic syndrome of inapproriate antidiuresis (AVPR2) D S Urofacial syndrome (LRIG2) H D S Nephrolithiasis type I (CLCN5) D S Vesicoureteral reflux type 2 (ROBO2) D S Nephrolithiasis/osteoporosis, hypophosphatemic, type 1 (SLC34A1) D S Vesicoureteral reflux type 3 (SOX17) D S Nephronophthisis type 1 (NPHP1) D S Wilms tumor type 1 (WT1) D S Nephronophthisis type 2 (INVS) D S Wilson diease (ATP7B)

Other NGS Panels:

D S Bardet Biedl panel (ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP) D S Heterotaxy panel (ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, NKX2-5, NODAL, ZIC3) D S Hirschsprung disease panel (ECE1, EDN3, EDNRB, GDNF, KIAA1279, NRG1, NRTN, RET, SOX10, ZEB2) (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, EXOC8, INPP5E, KIF7, MSK1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, D S Joubert syndrome panel TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423) D S Meckel syndrome panel MKS1, TMEM216, TMEM67, CEP290, RGRIP1L, CC2D2A, NPHP3, TCTN2, B9D1, B9D2, TMEM231 D S Pancreatitis panel (PRSS1, SPINK1, CFTR, CTRC)

Page 7/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 2. ENDOCRINE, DIGESTION, UROGENITAL 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): ` Other (continued) Single genes:

D S Antitrypsin-alpha-1 deficiency (SERPINA1) H D S Hirschsprung disease (RET) D S Alagille syndrome type 1 (JAG1) D S Hirschsprung disease (SOX10) D S Alagille syndrome type 2 (NOTCH2) D S Hirschsprung disease (ZEB2) D S Alagille syndrome type 3 (JAG2) D S Hyperbilirubinemia, Rotor type (SLCO1B1) D S Bardet-Biedl syndrome CCDC28B related (CCDC28B) D S Hyperbilirubinemia, Rotor type (SLCO1B3) D S Bardet-Biedl syndrome LZTFL1 related (LZTFL1) D S Hypotonia-cystinuria syndrome (PREPL) H D S Bardet-Biedl syndrome type 1 (BBS1) D S Intrinsic factor deficiency (GIF) H D S Bardet-Biedl syndrome type 2 (BBS2) D S Intestinal atresia, multiple (TTC7A) H D S Bardet-Biedl syndrome type 3 (ARL6) D S Intestinal pseudoobstraction, neuronal (FLNA) H R S Bardet-Biedl syndrome type 4 (BBS4) D S Inflammatory bowel disease type 13 (ABCB1) D S Bardet-Biedl syndrome type 5 (BBS5) D S Johanson Blizzard syndrome (UBR1) H D S Bardet-Biedl syndrome type 6 (MKKS) H D S Joubert syndrome type 1 (INPP5E) H D S Bardet-Biedl syndrome type 7 (BBS7) D S Joubert syndrome type 2 (TMEM216)

D S Bardet-Biedl syndrome type 8 (TTC8) D S Joubert syndrome type 3 (AHI1)

D S Bardet-Biedl syndrome type 9 (BBS9) D S Joubert syndrome type 4 (NPHP1)

H D S Bardet-Biedl syndrome type 10 (BBS10) D S Joubert syndrome type 5 (CEP290)

H D S Bardet-Biedl syndrome type 11 (TRIM32) D S Joubert syndrome type 6 (TMEM67)

H D S Bardet-Biedl syndrome type 12 (BBS12) D S Joubert syndrome type 7 (RPGRIP1L)

H D S Bardet-Biedl syndrome type 13 (MKS1) D S Joubert syndrome type 8 (ARL13B)

H D S Bardet-Biedl syndrome type 15 (WDPCP) D S Joubert syndrome type 9 (CC2D2A)

D Beckwith-Wiedemann syndrome (chr. 11p15) D S Joubert syndrome type 10 (OFD1)

D S Beckwith-Wiedemann syndrome (CDKN1C) D S Joubert syndrome type 13 (TCTN1)

D S Beckwith-Wiedemann syndrome (NSD1) D S Joubert syndrome type 14 (TMEM237)

D S Beckwith-Wiedemann syndrome (KCNQ1OT1) D S Joubert syndrome type 15 (CEP41)

D S Beckwith-Wiedemann syndrome (H19) D S Joubert syndrome type 16 (TMEM138)

H D S Cholestasis (intrahepatic) of pregnancy (ABCB4) D S Joubert syndrome type 17 (C5orf42)

D S Cholestasis progressive intrahepatic type 1 (ATP8B1) D S Joubert syndrome type 18 (TCTN3)

D S Cholestasis progressive intrahepatic type 2 (ABCB11) D S Joubert syndrome type 20 (TMEM231)

H D S Cholestasis progressive intrahepatic type 3 (ABCB4) D S Joubert syndrome type 21 (CSPP1)

D S Congenital short-bowel syndrome (CLMP) D S Joubert syndrome, EXOC8 related (EXOC8)

D S Cystic fibrosis (CFTR) D S Joubert syndrome, EXOSC8 related (EXOSC8)

D S Cystinosis, nephropathic (CTNS) D S Left-right axis malformations (LEFTY2)

D S Cystinuria (SLC3A1) D S Liver failure transient infantile (TRMU)

D S Cystinuria (SLC7A9) D S Lowe oculocerebrorenal syndrome (OCRL)

D S Cystinuria (PREPL) D S Lysinuric protein intolerance (SLC7A7)

D S Diarrhea type 2 with microvillus atrophy (MYO5B) H D S McKusick-Kaufman-Syndrome (MKKS)

D S Dubin-Johnson syndrome (ABCC2) D S Meacham syndrome (WT1)

D S Epstein syndrome (MYH9) H D S Meckel syndrome type 1 (MKS1)

D S Fanconi renotubular syndrome 2 (SLC34A1) D S Meckel syndrome type 3 (TMEM67)

D S Fanconi-Bickel syndrome (SLC2A2) D S Meckel syndrome type 4 (CEP290)

D S Feingold syndrome (MYCN) D S Meckel syndrome type 8 (TCTN2)

H D S Gallbladder disease type 1 (ABCB4) D S Meckel syndrome type 9 (B9D1)

D S Gilbert syndrome (UGT1A1) D S Meckel syndrome type 10 (B9D2)

D S Goldberg-Shprintzen megacolon syndrome (KIAA1279) D S Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)

D S Hepatic failure, early onset, and neurologic disorder (SCO1) D S Pancreatitis (PRSS1)

D S Heterotaxy, visceral type 1 (ZIC3) D S Pancreatitis (SPINK1)

D S Heterotaxy, visceral type 2 (CFC1) D S Pancreatitis (CFTR)

D S Heterotaxy, visceral type 4 (ACVR2B) D S Pancreatitis (CTRC)

D S Heterotaxy, visceral type 5 (NODAL) D S Pancreatitis, chronic, protection against (PRSS2)

D S Hirschsprung disease (ECE1) D S Perlman Syndrome (DIS3L2) D S Hirschsprung disease (EDN3) D S Senior-Loken syndrome type 7 (SDCCAG8)

D S Hirschsprung disease (EDNRB) D S Smith-Lemli-Opitz syndrome (DHCR7)

D S Hirschsprung disease (GDNF) D S Trichohepatoenteric syndrome type 1 (TTC37)

D S Hirschsprung disease (KIAA1279) D S Trichohepatoenteric syndrome type 2 (SKIV2L)

D S Hirschsprung disease (NRG1) D S VACTERL association (HOXD13)

D S Hirschsprung disease (NRTN)

Page 8/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 3. EAR, NOSE AND THROAT 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

` Please indicate requests for Hot Spot (H), Exon (E), Sequencing (S), and/or Deletion/Duplication (D) analysis

Non-syndromic Hearing Loss

NGS Panels: Deafness, non-syndromic sensorineural (CDH23, CLDN14, COL11A2, DFNB31, DFNB59, ESPN, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, HGF, ILDR1, KCNJ10, D S LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, POU3F4, PRPS1 PTPRQ, autosomal recessive panel RDX, SERPINB6, SLC12A1, SLC26A4, SLC26A5, SMPX, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C) Deafness, non-syndromic sensorineural (ACTG1, CCDC50, COCH, COL11A2, CRYM, DFNA5, DIABLO, DIAPH1, DIAPH3, DSPP, EYA4, GJB2, GJB3, GJB6, GRHL2, KCNQ4, D S autosomal dominant panel MIR96, MYH14, MYH9, MYO1A, MYO6, MYO7A, POU3F4, POU4F3, PRPS1, SIX1, SLC17A8, SMPX, TECTA, TJP2, TMC1, WFS1) Single genes: D S Deafness, autosomal recessive (SYNE4) D S Deafness, autosomal recessive type 79 (TPRN)

D S Deafness, autosomal recessive (SUN1) D S Deafness, autosomal recessive type 84 (PTPRQ)

D S Deafness, autosomal recessive (GJB3) D S Deafness, autosomal recessive type 91 (SERPINB6)

H D S Deafness, autosomal recessive type 1A (GJB2) D S Deafness, autosomal dominant type 1 (DIAPH1) H D S Deafness, autosomal recessive type 1B (GJB6) D S Deafness, autosomal dominant type 2A (KCNQ4) H D S Deafness, autosomal recessive type 2 (MYO7A) D S Deafness, autosomal dominant type 2B (GJB3) H D S Deafness, autosomal recessive type 3 (MYO15A) H D S Deafness, autosomal dominant type 3A (GJB2) D S Deafness, autosomal dominant type 4 (MYH14) H D S Deafness, autosomal dominant type 3B (GJB6) D S Deafness, autosomal recessive type 6 (TMIE) D S Deafness, autosomal dominant type 4 (MYH14) H D S Deafness, autosomal recessive type 7 (TMC1) D S Deafness, autosomal dominant type 5 (DFNA5) D S Deafness, autosomal recessive type 8/10 (TMPRSS3) D S Deafness, autosomal dominant type 6 (WFS1) H D S Deafness, autosomal recessive type 9 (OTOF) D S Deafness, autosomal dominant type 9 (COCH) D S Deafness, autosomal recessive type 15 (GIPC3) D S Deafness, autosomal dominant type 10 (EYA4) H D S Deafness, autosomal recessive type 16 (STRC) H D S Deafness, autosomal dominant type 11 (MYO7A) H D S Deafness, autosomal recessive type 18 (USH1C) D S Deafness, autosomal dominant type 12 (TECTA) D S Deafness, autosomal recessive type 22 (OTOA) H D S Deafness, autosomal dominant type 13 (COL11A2) D S Deafness, autosomal recessive type 23 (PCDH15) D S Deafness, autosomal dominant type 15 (POU4F3) D S Deafness, autosomal recessive type 24 (RDX) D S Deafness, autosomal dominant type 17 (MYH9) D S Deafness, autosomal recessive type 25 (GRXCR1) D S Deafness, autosomal dominant type 20 (ACTG1) D S Deafness, autosomal recessive type 28 (TRIOBP) D S Deafness, autosomal dominant type 22 (MYO6) D S Deafness, autosomal recessive type 29 (CLDN14) D S Deafness, autosomal dominant type 23 (SIX1) D S Deafness, autosomal recessive type 30 (MYO3A) D S Deafness, autosomal dominant type 25 (SLC17A8) D S Deafness, autosomal recessive type 31 (DFNB31) D S Deafness, autosomal dominant type 28 (GRHL2) D S Deafness, autosomal recessive type 35 (ESRRB) H D S Deafness, autosomal dominant type 36 (TMC1) D S Deafness, autosomal recessive type 36 (ESPN) D S Deafness, autosomal dominant type 39 (DSPP) H D S Deafness, autosomal recessive type 39 (HGF) D S Deafness, autosomal dominant type 40 (CRYM) D S Deafness, autosomal recessive type 42 (ILDR1) D S Deafness, autosomal dominant type 44 (CCDC50) H D S Deafness, autosomal recessive type 48 (CIB2) D S Deafness, autosomal dominant type 48 (MYO1A) D S Deafness, autosomal recessive type 49 (MARVELD2) E D S Deafness, autosomal dominant type 50 (MIR96) H D S Deafness, autosomal recessive type 53 (COL11A2) D S Deafness, autosomal dominant type 52 (POU4F3) D S Deafness, autosomal recessive type 59 (DFNB59) D S Deafness, autosomal dominant type 64 (DIABLO) D S Deafness, autosomal recessive type 61 (SLC26A5) H D S Deafness, X-linked type 1 (PRPS1) D S Deafness, autosomal recessive type 63 (LRTOMT) D S Deafness, X-linked type 2 (POU3F4) D S Deafness, autosomal recessive type 67 (LHFPL5) D S Deafness, X-linked type 4 (SMPX) D S Deafness, autosomal recessive type 74 (MSRB3) D S Deafenss nonsyndromic sensorineural mitochondrial (MT-RNR1) D S Deafness, autosomal recessive type 77 (LOXHD1) D S Mitochondrial modifier of deafness (TRMU)

Other

NGS Panels:

D S Alport syndrome panel (COL4A3, COL4A4, COL4A5) (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, EXOC8, INPP5E, KIF7, MSK1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, D S Joubert syndrome panel TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423) (DNAI1, DNAAF3, DNAH5, HYDIN , NME8, DNAH11, DNAI2 , RSPH4A, RSPH9, DNAAF1, CCDC39 , CCDC40, DNAL1, CCDC103, HEATR2, LRRC6, D S Primary cilary dyskinesia panel CCDC114) Single genes:

D S Alport syndrome, autosomal recessive (COL4A3) D S Bjornstad syndrome (BCS1L) D S Alport syndrome, autosomal recessive (COL4A4) D S Branchiootorenal syndrome type 1 (EYA1) D S Alport syndrome, X-Linked (COL4A5) D S Branchiootorenal syndrome type 2 (SIX5) D S Auditory neuropathy, autosomal dominant (DIAPH3) D S Brown-Vialetto-Van Laere syndrome 1 (SLC52A3) D S Auriculocondylar syndrome type 1 (GNA13) D S CHARGE syndrome (CHD7) D S Auriculocondylar syndrome type 2 (PLCB4) D S Chudley-McCullough syndrome (GPSM2)

Page 9/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 3. EAR, NOSE AND THROAT 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): ` Other (Continued)

D S Ciliogenesis related disorder (PTPN23) D S Otopaladigital syndrome type 1 (FLNA) D S Dystonia-deafness syndrome (TIMM8A) D S Otopaladigital syndrome type 2 (FLNA) D S Epstein syndrome (MYH9) S Pendred syndrome (SLC26A4) D S Fazio-Londe disease (SLC52A3) D S Primary ciliary dyskinesia type 1 (DNAI1) D S Growth retardation with deafness and mental retardation due to IGF1 deficiency (IGF1) H D S Primary ciliary dyskinesia type 2 (DNAAF3) D S Joubert syndrome type 1 (INPP5E) H D S Primary ciliary dyskinesia type 3 (DNAH5) D S Joubert syndrome type 2 (TMEM216) D S Primary ciliary dyskinesia type 5 (HYDIN) D S Joubert syndrome type 3 (AHI1) D S Primary ciliary dyskinesia type 6 (NME8) D S Joubert syndrome type 4 (NPHP1) D S Primary ciliary dyskinesia type 7 (DNAH11) D S Joubert syndrome type 5 (CEP290) D S Primary ciliary dyskinesia type 9 (DNAI2) D S Joubert syndrome type 6 (TMEM67) D S Primary ciliary dyskinesia type 10 (DNAAF2) D S Joubert syndrome type 7 (RPGRIP1L) D S Primary ciliary dyskinesia type 11 (RSPH4A) D S Joubert syndrome type 8 (ARL13B) D S Primary ciliary dyskinesia type 12 (RSPH9) D S Joubert syndrome type 9 (CC2D2A) D S Primary ciliary dyskinesia type 13 (DNAAF1) D S Joubert syndrome type 10 (OFD1) D S Primary ciliary dyskinesia type 14 (CCDC39) D S Joubert syndrome type 13 (TCTN1) D S Primary ciliary dyskinesia type 15 (CCDC40) D S Joubert syndrome type 14 (TMEM237) D S Primary ciliary dyskinesia type 16 (DNAL1) D S Joubert syndrome type 15 (CEP41) D S Primary ciliary dyskinesia type 17 (CCDC103) D S Joubert syndrome type 16 (TMEM138) D S Primary ciliary dyskinesia type 18 (HEATR2) D S Joubert syndrome type 17 (C5orf42) D S Primary ciliary dyskinesia type 19 (LRRC6) D S Joubert syndrome type 18 (TCTN3) D S Primary ciliary dyskinesia type 20 (CCDC114) D S Joubert syndrome type 20 (TMEM231) H D S Progressive hearing loss (P2RX2) D S Joubert syndrome type 21 (CSPP1) H D S Tietz albinism-deafness syndrome (MITF) D S Joubert syndrome, EXOC8 related (EXOC8) D S Townes-Brocks syndrome (SALL1) D S Joubert syndrome, EXOSC8 related (EXOSC8) D S Townes-Brocks syndrome (SALL4) D S Joubert syndrome type 4 (NPHP1) D S Wolfram syndrome type 1 (WFS1) D S Opticoacoustic nerve atrophy with dementia (TIMM8A) D S Wolfram syndrome type 2 (CISD2) D S Otofaciocervical syndrome (EYA1)

Page 10/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 4. METABOLIC 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Please indicate requests for Hot Spot (H), Sequencing (S), Repeat Expansion (R) and/or Deletion/Duplication (D) analysis

Amino Acid Disorders, Organic Acid Disorders and Urea Cycle Defects

NGS Panels:

D S Advanced methylmalonic acidemia panel (ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1) D S Basic methylmalonic acidemia panel (MCEE, MMAA, MMAB, MMADHC, MUT) S Maple syrup urine disease panel (BCKDHA, BCKDHB, DBT, DLD) D S Urea cycle disorder panel (ARG1, ASL1, ASS1, CPS1, NAGS, OTC) Single genes: D S 3-Hydroxy-3-methylglutaryl-CoA lyase (HMG-Co Lyase) deficiency (HMGCL) D S Malonic aciduria (MLYCD) D S 3-Methylglutaconic aciduria type 1 (AUH) D S Lysinuric protein intolerance (SLC7A7) D S 3-Methylglutaconic aciduria type 3 (OPA3) D S Malonic aciduria (MLYCD) D S 3-Methylcrotonyl-CoA carboxylase 1 (3-MCC) deficiency (MCCC1) D S Maple syrup urine disease type 1A (BCKDHA) D S 3-Methylcrotonyl-CoA carboxylase 2 (3-MCC) deficiency (MCCC2) D S Maple syrup urine disease type 1B (BCKDHB) D S Alkaptonuria (HGD) D S Maple syrup urine disease type 2 (DBT) D S Alpha methylacyl CoA racemase deficiency (AMACR) D S Maple syrup urine disease type 3 (DLD) H D S Aminoacylase deficiency (ACY1) D S Methylacetoacetic aciduria (ACAT1) D S Arginase deficiency (ARG1) D S Methylcobalamin deficiency CblG type (MTR) D S Arginine-glycine amidinotransferase deficiency (GATM) D S Methylmalonic aciduria CbIA type (MMAA) D S Argininosuccinic aciduria (ASL) D S Methylmalonic aciduria CblB type (MMAB) D S Aspartylglucosaminuria (ASA) D S Methylmalonic aciduria CbIC type (MMACHC) D S Asparagine synthetase deficiency (ASNS) D S Methylmalonic aciduria Cb1D type (MMADHC) D S Biotinidase deficiency (BTD) D S Methylmalonic aciduria Cb1F type (LMBRD1) D S Carbamoylphosphate synthetase I deficiency (CPS1) D S Methylmalonic aciduria Cb1J type (ABCD4) D S Combined D-2- and L-2-hydroxyglutaric aciduria (SLC25A1) D S Methylmalonic aciduria CbIR type (CD320) D S Combined malonic and methylmalonic aciduria (ACSF3) D S Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MUT) D S Citrin deficiency (SLC25A13) D S Methylmalonyl-CoA epimerase deficiency (MCEE) D S Citrullinemia (ASS1) D S Mevalonic aciduria (MVK) D S D-2-hydroxyglutaric aciduria (D2HGDH) D S Molybdenum cofactor deficiency type A (MOCS1) D S Fumarase deficiency (FH) D S Molybdenum cofactor deficiency type B (MOCS2) D S Glutamate formiminotransferase deficiency (FTCD) D S N-acetylglutamate synthase deficiency (NAGS) D S Glutaric acidemia (GCDH) D S Ornithine transcarbamoylase deficiency (OTC) D S Glutathione synthetase deficiency (GSS) D S Phenylketonuria (PAH) D S Glutathione S-transferase theta-1 defficiency (GSTT1) D S Propionic acidemia (PCCA) D S Guanidinoacetate methyltransferase deficiency (GAMT) D S Propionic acidemia (PCCB) D S Hartnup disorder (SLC6A19) D S Sulfite oxidase deficiency (SUOX) D S Holocarboxylase synthetase deficiency (HLCS) D S Transcobalamin II deficiency (TCN2) D S Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome (SLC25A15) D S Trimethylaminuria (FMO3) D S Hyperphenylalaninemia, BH4-deficient (QDPR) D S Tyrosine kinase 2 deficiency (TYK2) D S Isovaleric acidemia (IVD) D S Tyrosinemia type 1 (FAH) D S L-2-hydroxyglutaric aciduria (L2HGDH) D S Tyrosinemia type 1B (GSTZ1) D S Lysinuric protein intolerance (SLC7A7) D S Tyrosinemia type 2 (TAT) D S Malonic aciduria (MLYCD)

Disorders of Carbohydrate Metabolism NGS Panels: (GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, S Advanced Glycogen storage disease panel PHKA1, PGM1, GYG1, PRKAG2, PHKG2) D S Basic Glycogen storage disease panel (G6PC, SLC37A4, AGL, GBE1) Single genes: D S Fanconi-Bickel syndrome (SLC2A2) D S Glycogen storage disease type 0 muscle (GYS1) D S Fructose intolerance (ALDOB) H D S Glycogen storage disease type 1A, Von-Gierke diease (G6PC) D S Fructose-1,6-bisphosphatase deficiency (FBP1) H D S Glycogen storage disease type 1B (SLC37A4) D S Fructosuria essential (KHK) H D S Glycogen storage disease type 1C (SLC37A4) D S Galactosemia (GALT) D S Glycogen storage disease type 2, Pompe disease (GAA) D S Galactokinase deficiency (GALK1) D S Glycogen storage disease type 3 (AGL) D S Galactose epimerase deficiency (GALE) D S Glycogen storage disease type 4 (GBE1) Glucose-6-phosphate dehydrogenase deficiency with nonspherocytic hemolytic D S D S anemia (G6PD) H Glycogen storage disease type 5 (PYGM) D S Glucose/Galactose malabsorption (SLC5A1) D S Glycogen storage disease type 6B (PYGL) D S Lactoase intolorance, Adult type (MCM6) D S Glycogen storage disease type 7 (PFKM) D S Pyruvate carboxylase deficiency (PC) D S Glycogen storage disease type 9A (PHKA2) D S Pyruvate dehydrogenase E1-alpha deficiency (PDHA1) D S Glycogen storage disease type 9B (PHKB) D S Pyruvate dehydrogenase E1-beta deficiency (PDHB) D S Glycogen storage disease type 9C (PHKG2) D S Pyruvate dehydrogenase E2 deficiency (DLAT) H D S Glycogen storage disease type 10 (PGAM2) D S Pyruvate dehydrogenase lipoic acid synthetase deficiency (LIAS) D S Glycogen storage disease type 11 (LDHA) D S Pyruvate dehydrogenase phosphatase deficiency (PDP1) D S Glycogen storage disease type 12 (ALDOA) D S Pyruvate kinase deficiency with hemolytic anemia (PKLR) R S Glycogen storage disease type 13 (ENO3) D S Glycogen storage disease of heart (lethal) (PRKAG2) D S Glycogen storage disease type 14 (PGM1) Page 11/38 D S Glycogen storage disease type 0 (GYS2) D S Glycogen storage disease type 15 (GYG1) The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 4. METABOLIC 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Disorders of Fatty Acid and Glycerol Metabolism

NGS Panels:

S Refsum disease panel (PEX1, PEX2, PEX26, PEX7, PHYH) Single genes: D S 2 4-Dienoyl-CoA reductase 1 deficiency (DECR1) D S Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (ACADM) Multiple acyl-CoA dehydrogenase deficiency (MADD) or Glutaric Aciduria type 2 D S D S 3-Hydroxy-3-methylglutaryl-CoA lyase (HMG-Co Lyase) deficiency (HMGCL) (ETFA) Multiple acyl-CoA dehydrogenase deficiency (MADD) or Glutaric Aciduria type 2 D S D S 3-Hydroxyacyl-CoA dehydrogenase deficiency (HADH) (ETFB) Multiple acyl-CoA dehydrogenase deficiency (MADD) or Glutaric Aciduria type 2 D S D S Carnitine deficiency (SLC22A5) (ETFDH) D S Carnitine-acylcarnitine translocase deficiency (SLC25A20) H D S Short chain acyl-CoA dehydrogenase (SCAD) deficiency (ACADS) D S Carnitine palmitoyltransferase deficiency (hepatic) type IA (CPT1A) D S Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (ACADVL) D S Carnitine palmitoyltransferase IB deficiency (CPT1B) D S Refsum disease (PHYH) D S Carnitine palmitoyltransferase II deficiency (CPT2) D S Refsum disease (PEX7) D S Glycerol kinase deficiency (GK) D S Succinyl CoA:3-oxoacid CoA transferase deficiency (OXCT1) D S Long-chain acyl-CoA dehydrogenase (LCAD) deficiency (ACADL) D S Trifunctional protein deficiency (HADHA) D S Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (HADHA)

Hyperinsulinemia and Diabetes

NGS Panels:

D S Diabetes neonatal panel (ABCC8, FOXP3, G6PC2, GCK GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1) D S MODY panel (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, NKX2-2, PAX4, PDX1, RFX6, ZFP57) Single genes: D S Diabetes insipidus, nephrogenic, autosomal (AQP2) D S Maturity-onset diabetes of the young RFX6 related (RFX6) D S Diabetes insipidus nephrogenic X-Linked (AVPR2) D S Maturity-onset diabetes of the young type 1 (HNF4A) D S Diabetes mellitus insulin-resistant with acanthosis nigricans (INSR) D S Maturity-onset diabetes of the young type 2 (GCK) D S Diabetes mellitus neonatal (GLIS3) D S Maturity-onset diabetes of the young type 3 (HNF1A) H D S Diabetes mellitus noninsulin-dependent (KCNJ11) D S Maturity-onset diabetes of the young type 4 (PDX1) D S Diabetes mellitus permanent neonatal (G6PC2) D S Maturity-onset diabetes of the young type 5 (HNF1B) D S Diabetes mellitus permanent neonatal (NEUROG3) D S Maturity-onset diabetes of the young type 6 (NEUROD1) H D S Diabetes mellitus type 1 (INS) D S Maturity-onset diabetes of the young type 7 (KLF11) D S Hyperinsulinemic hypoglycemia type 1 (ABCC8) D S Maturity-onset diabetes of the young type 8 (CEL) H D S Hyperinsulinemic hypoglycemia type 2 (KCNJ11) D S Maturity-onset diabetes of the young type 9 (PAX4) D S Hyperinsulinemic hypoglycemia type 3 (GCK) H D S Maturity-onset diabetes of the young type 10 (INS) D S Hyperinsulinemic hypoglycemia type 6 (GLUD1) H D S Maturity-onset diabetes of the young type 11 (BLK) D S Insulin-like growth factor resistance (IGF1R) D S Maturity-onset diabetes of the young ZFP57 related (ZFP57) D S Maturity-onset diabetes of the young NKX2-2 related (NKX2-2) D S Microvascular complications of diabetes 1 (VEGFA)

Lysosomal Storage Disorders

NGS Panels: (ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG12, ALG13, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DOLK, DPAGT1, DPM1, D S Glycosylation disorder panel DPM3, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1) D S Lysosomal storage disease panel (ARSA, FUCA1, GALC, GBA, GLB1, GNPTAB, GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA, SMPD1) (ABHD5, ACADVL, AGL, CPT2, ENO3, ETFA, ETFB, ETFDH, GAA, GBE1, GYG1, GYS1, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, D S Metabolic myopathies panel PNPLA2, PRKAG2, PYGM, SLC22A5, SLC25A20, TAZ) D S Mucopolysaccharidosis panel (IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB, GUSB, HYAL1, LDB3, MYOT) Single genes: D S Andersen Disease (GBE1) D S Farber disease (ASAH1) D S Cori Forbes disease (AGL) D S Fucosidosis (FUCA1) D S Ceroid lipofuscinosis neuronal type 1 (PPT1) D S Galactosialidosis (CTSA) D S Ceroid lipofuscinosis neuronal type 2 (TPP1) H D S Gaucher disease (GBA) D S Ceroid lipofuscinosis neuronal type 3 (CLN3) D S Glycosylation disorder type 1A (PMM2) H D S Ceroid lipofuscinosis neuronal type 4 (DNAJC5) D S Glycosylation disorder type 1B (MPI) D S Ceroid lipofuscinosis neuronal type 5 (CLN5) H D S Glycosylation disorder type 1C (ALG6) D S Ceroid lipofuscinosis neuronal type 6 (CLN6) D S Glycosylation disorder type 1D (ALG3) D S Ceroid lipofuscinosis neuronal type 7 (MFSD8) D S Glycosylation disorder type 1E (DPM1) D S Ceroid lipofuscinosis neuronal type 8 (CLN8) H D S Glycosylation disorder type 1F (MPDU1) D S Ceroid lipofuscinosis neuronal type 10 (CTSD) H D S Glycosylation disorder type 1G (ALG12) D S Chanarin-Dorfman syndrome (ABHD5) D S Glycosylation disorder type 1H (ALG8) D S Cystinosis nephropathic (CTNS) H D S Glycosylation disorder type 1I (ALG2) H D S Fabry disease (GLA) D S Glycosylation disorder type 1J (DPAGT2)

Page 12/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 4. METABOLIC 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Lysosomal Storage Disorders (continued)

D S Glycosylation disorder type 1K (ALG1) D S Mucolipidosis type (GNPTAB) D S Glycosylation disorder type 1L (ALG9) D S Mucolipidosis type 3 (GNPTAB) D S Glycosylation disorder type 1M (DOLK) D S Mucolipidosis type 3 gamma (GNPTG) D S Glycosylation disorder type 1N (RFT1) D S Mucolipidosis type 4 (MCOLN1) D S Glycosylation disorder type 1O (DPM3) H D S Mucopolysaccharidosis type 1 : Hurler syndrome (IDUA) D S Glycosylation disorder type IR (DDOST) H D S Mucopolysaccharidosis type 1 : Hurler-Scheie syndrome (IDUA) D S Glycosylation disorder type 1S (ALG13) H D S Mucopolysaccharidosis type 1 : Scheie syndrome (IDUA) D S Glycosylation disorder type 2A (MGAT2) H D S Mucopolysaccharidosis type IH (IDUA) D S Glycosylation disorder type 2B (MOGS) D S Mucopolysaccharidosis type 2 : Hunter syndrome (IDS) D S Glycosylation disorder type 2C (SLC35C1) D S Mucopolysaccharidosis type 3A: Sanfilippo syndrome (SGSH) D S Glycosylation disorder type 2D (B4GALT1) D S Mucopolysaccharidosis type 3B : Sanfilippo syndrome (NAGLU) D S Glycosylation disorder type 2E (COG7) D S Mucopolysaccharidosis type 3C : Sanfilippo syndrome (HGSNAT) D S Glycosylation disorder type 2F (SLC35A1) D S Mucopolysaccharidosis type 3D : Sanfilippo syndrome (GNS) D S Glycosylation disorder type 2G (COG1) D S Mucopolysaccharidosis type 4A : Morquio Type A (GALNS) D S Glycosylation disorder type 2H (COG8) H D S Mucopolysaccharidosis type 4B : Morquio Type B (GLB1) D S Glycosylation disorder type 2I (COG5) D S Mucopolysaccharidosis type 6 : Maroteaux-Lamy (ARSB) D S Glycosylation disorder type 2J (COG4) D S Mucopolysaccharidosis type 7 : Sly syndrome (GUSB) D S Glycosylation disorder type 2K (TMEM165) D S Mucopolysaccharidosis type 9 (HYAL1) D S Glycosylation disorder type 2M (SLC35A2) D S Muscle glycogenosis (PHKA1) D S Glycosylation disorder type 3 (COG6) D S Neuraminidase deficiency (NEU1) D S Glycosylation disorder x-linked (SSR4) D S Niemann-Pick disease type A/B (SMPD1) H D S GM1-gangliosidosis type 1 (GLB1) D S Niemann-Pick disease type C1 (NPC1) H D S GM1-gangliosidosis type 2 (GLB1) D S Niemann-Pick disease type C2 (NPC2) D S GM2-gangliosidosis type 2 (HEXB) D S Prosaposin deficiency (PSAP) H D S Krabbe disease (GALC) D S Sandhoff disease (HEXB) D S Lysosomal acid phosphatase deficiency (ACP2) D S Schindler disease (NAGA) D S Mannosidosis-alpha (MAN2B1) D S Tay-Sachs disease (HEXA) D S Mannosidosis-beta (MANBA) D S Tay-Sachs disease AB variant (GM2A) D S Metachromatic Leukodystrophy (ARSA) D S Wolman disease (LIPA)

Other

NGS Panels:

Advanced Ashkenazi (Sanger) panel GBA (8 mut), CFTR (26 mut), HEXA (7mut), IKBKAP (2 mut), ASPA (4 mut), G6PC (2 mut) ABCC8 (2 mut), MCOLN1 (2 mut), *includes BRCA1/BRCA2 analysis. To opt out, please BCKDHB (3mut), FANCC (2 mut), DLD (2 mut), SMPD1 (4 mut), CLRN1 (1 mut), PCDH15 (1mut), BLM (1mut), NEB (1 mut), S indicated in the “Test Instructions” BRCA1 (2 mut), BRCA2 (1 mut) S Basic Ashkenazi (Sanger) panel HEXA (7 mutations), IKBKAP (2 mut), ASPA (4 mut),MCOLN1 (2 mut), FANCC (2 mut), SMPD1 (4 mut), BLM (1 mut) D S Familial hypercholesterolemia panel APOB, GHR, LDLR, PCSK9 D S Surfactant metabolism dysfunction panel ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD Single genes: D S Adenylosuccinase deficiency (ADSL) D S Cystic fibrosis (CFTR) H D S Antitrypsin-alpha-1 deficiency (SERPINA1) D S Dihydropyrimidine dehydrogenase deficiency (DPYD) D S Amyloidosis, familial visceral (APOA1) D S Fish eye disease (LCAT) D S AMP deaminase deficiency, erythrocytic (AMPD3) H D S Gallbladder disease type 1 (ABCB4) D S Apolipoprotein C-II deficiency (APOC2) R S Glucocorticoid deficiency type 1 (MC2R) H D S Apolipoprotein E deficiency (APOE) D S Glucocorticoid deficiency type 2 (MRAP) D S Apparent mineralocorticoid excess (HSD11B2) D S GRACILE syndrome (BCS1L) R Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency (ST6GAL2) D S Hyperlipoproteinemia type 1 (LPL) H D S Bile acid synthesis defect (CYP7B1) D S Hypermanganesemia with dystonia, polycythemia and cirrhosis (SLC30A10) D S Bloom syndrome (BLM) D S Hyperoxaluria type 1 (AGXT) D S Bronchiectasis with or without elevated sweat chloride type 2 (SCNN1A) D S Hyperoxaluria type 2 (GRHPR) H D S Cholestasis (intrahepatic) of pregnancy (ABCB4) D S Hyperoxaluria, SLC26A6 related (SLC26A6) D S Cholestasis progressive intrahepatic type 1 (ATP8B1) D S Hypoalphalipoproteinemia (APOA1) D S Cholestasis progressive intrahepatic type 2 (ABCB11) D S Hypocalcemia, autosomal dominant 2 (GNA11) H D S Cholestasis progressive intrahepatic type 3 (ABCB4) D S Hypercalcemia infantile type (CYP24A1) D S Colchicine resistance (ABCB1) D S Hypocalciuric hypercalcemia, familial, type 3 (AP2S1) D S Combined oxidative phosphorylation deficiency type 1 (GFM1) D S Hypercholesterolemia (ABCA1) D S Combined oxidative phosphorylation deficiency type 2 (MRPS16) D S Hypercholesterolemia autosomal dominant type 3 (PCSK9) D S Combined oxidative phosphorylation deficiency type 3 (TSFM) D S Hypercholesterolemia autosomal recessive (LDLRAP1) Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant D S D S Combined oxidative phosphorylation deficiency type 4 (TUFM) (LDLR) D S Combined oxidative phosphorylation deficiency type 6 (AIFM1) H D S Hypercholesterolemia type B autosomanl dominant (APOB) D S Combined oxidative phosphorylation deficiency type 7 (C12ORF65) D S Hypercholesterolemia, familial (GHR) D S Combined oxidative phosphorylation deficiency type 9 (MRPL3) D S Hypercholanemia (BAAT) D S Combined oxidative phosphorylation deficiency type 15 (MTFMT) D S Hypercholanemia (TJP2) D S Coproporphyria (CPOX) D S Hypomagnesemia type 1 (TRPM6)

D S Cytochrome C oxidase deficiency (COX6B1) D S Hypomagnesemia type 2 (FXYD2) D S Creatine deficiency syndrome X-linked (SLC6A8) D S Hypomagnesemia type 3 (CLDN16) D S CYP2C19-related poor drug metabolism (CYP2C19) D S Hypomagnesemia type 4 (EGF) D S CYP2D6-related poor drug metabolism (CYP2D6) D S Hypomagnesemia type 5 (CLDN19) D S Cytochrome P450 deficiency (CYP1A2) D S Hypomagnesemia type 6 (CNNM2) Page 13/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 4. METABOLIC 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Other (continued)

D S Hypophosphatasia (ALPL) D S Pseudohermaphroditism with gynecomastia (HSD17B3) D S Lacticacidemia due to PDX1 deficiency (PDHX) D S Pyridoxamine 5'-phosphate oxidase deficiency (PNPO) D S Lecithin:cholesterol acyltransferase (LCAT) deficiency (LCAT) D S Pseudohermaphroditism with gynecomastia (HSD17B3) D S Leukocyte adhesion deficiency (ITGB1) D S Riboflavinresponsive multiple acyl-CoA dehydrogenase deficiency (ETFDH) D S Leukocyte adhesion deficiency (ITGB2) D S Smith-Lemli-Opitz syndrome (DHCR7) D S Lipodystrophy generalized type 1 (AGPAT2) D S Spina bifida folate sensitive (MTRR) H D S Lipodystrophy generalized type 2 (BSCL2) D S Succinic semialdehyde dehydrogenase deficiency (ALDH5A1) D S Lipodystrophy generalized type 4 (PTRF) D S Sucrase-isomaltase deficiency (SI) D S Lung alpha-beta hydrolase deficiency type 1 (LABH1) D S Sulfatase deficiency (SUMF1) D S Mannose-binding protein deficiency (MBL2) D S Surfactant metabolism dysfunction (SFTPD) D S Mediterranean fever (MEFV) D S Surfactant metabolism dysfunction type 1 (SFTPB) D S Menkes disease (ATP7A) D S Surfactant metabolism dysfunction type 2 (SFTPC) D S Myoadenylate deaminase deficiency (AMPD1) D S Surfactant metabolism dysfunction type 3 (ABCA3) D S Orotic aciduria (UMPS) D S Surfactant metabolism dysfunction type 4 (CSF2RA) D S Pentosuria (DCXR) D S Surfactant metabolism dysfunction type 5 (CSF2RB) D S Periodic fever autosomal dominant (TNFRSF1A) D S Tangier disease (ABCA1) D S Prolidase deficiency (PEPD) D S Thiamine metabolism dysfunction syndrome type 5 (TPK1) D S Phosphoglycerate dehydrogenase deficiency (PHGDH) H D S TPMT deficiency (TPMT) H D S Phosphoribosylpyrophosphate synthetase superactivity (PRPS1) D S TJP1 deficiency (TJP1) D S Phosphoserine aminotransferase deficiency (PSAT1) D S Transaldolase defeciency (TALDO1) D S Phosphoserine phosphatase deficiency (PSPH) D S Urbach-Wiethe disease (ECM1) D S Porphyria acute intermittent (HMBS) H D S Wilson disease (ATP7B) D S Porphyria congenital erythropoietic (UROS) D S Xanthinuria type 1 (XDH D S Pyridoxamine 5'-phosphate oxidase deficiency (PNPO) D S Xanthinuria type 1 (XDH

Page 14/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 5. NEUROMUSCULAR & DEVELOPMENTAL DELAY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Please indicate requests for Hot Spot (H), Exon (E), Sequencing (S), Repeat Expansion (R) and/or Deletion/Duplication (D) analysis

Hereditary Polyneuropathies & ALS

NGS Panels: (ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, D S Amyotrophic lateral sclerosis (ALS) panel TARDBP, UBQLN2, VAPB, VCP, VEGFA, VPS54) CMT neuropathy axonal autosomal (AARS, ARHGEF10, DNM2, GAN, GARS, GDAP1, DYNC1H1, HSPB8, HSPB1, KIF1B, LMNA, MED25, MFN2, MPZ, NEFL, RAB7A, D S dominant panel SLC12A6, TRPV4, YARS) D S CMT neuropathy demyelinating panel (CTDP1, EGR2, FGD4, FIG4, GDPA1, GJB1, LITAF, MTMR2, MPZ, NDRG1, NEFL, PMP22, PRPS1, PRX, SBF2, SH3TC2)

D S Dejerine-Sottas syndrome panel (MPZ, PMP22, PRX, EGR2, GJB1) Single genes:

D S Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6) D S Charcot Marie Tooth type 4-CTDP1 related (CTDP1) D S Amyloidosis (TTR) D S Charcot Marie Tooth type 4A (GDAP1) D S Amyloidosis, finnish type (GSN) D S Charcot Marie Tooth type 4B1 (MTMR2) D S Amyotrophic lateral sclerosis CREST related (SS18L1) D S Charcot Marie Tooth type 4B2 (SBF2) D S Amyotrophic lateral sclerosis risk factor (CHGB) D S Charcot Marie Tooth type 4C (SH3TC2) D S Amyotrophic lateral sclerosis type 1 (SOD1) D S Charcot Marie Tooth type 4D (NDRG1) D S Amyotrophic lateral sclerosis type 2 (ALS2) D S Charcot Marie Tooth type 4E (EGR2) D S Amyotrophic lateral sclerosis type 4 (SETX) H D S Charcot Marie Tooth type 4E (MPZ) D S Amyotrophic lateral sclerosis type 6 (FUS) H D S Charcot Marie Tooth type 4F (PRX) D S Amyotrophic lateral sclerosis type 8 (VAPB) D S Charcot Marie Tooth type 4H (FGD4) D S Amyotrophic lateral sclerosis type 9 (ANG) D S Charcot Marie Tooth type 4J (FIG4) D S Amyotrophic lateral sclerosis type 10 (TARDBP) D S Charcot Marie Tooth type X1 (GJB1) D S Amyotrophic lateral sclerosis type 11 (FIG4) H D S Charcot Marie Tooth type X5 (PRPS1) D S Amyotrophic lateral sclerosis type 12 (OPTN) H D S Dejerine-Sottas disease (MPZ) D S Amyotrophic lateral sclerosis type 14 (VCP) H D S Dejerine-Sottas disease (PMP22) D S Amyotrophic lateral sclerosis type 16 (SIGMAR1) H D S Dejerine-Sottas disease (PRX) D S Amyotrophic lateral sclerosis type 17 (CHMP2B) D S Dejerine-Sottas disease (EGR2) D S Amyotrophic lateral sclerosis type 18 (PFN1) D S Dejerine-Sottas disease (GJB1) D S Amyotrophic lateral sclerosis VPS54 related (VPS54) D S Distal hereditary motor neuropathy type 2A (HSPB8) E R Amyotrophic lateral sclerosis with frontotemporal dementia (C9orf72) D S Distal hereditary motor neuropathy type 2B (HSPB1)

D S Amyotrophic lateral sclerosis, susceptibility to (NEFH) D S Distal hereditary motor neuropathy type 5 (GARS) D S Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS (UBQLN2) D S Distal hereditary motor neuropathyr type 6 (IGHMBP2) D S Cataracts with facial dysmorphism and neuropathy (CTDP1) D S Distal hereditary motor neuropathy type 7B (DCTN1) D S Cerebral palsy type 1, spastic quadriplegic (GAD1) D S Charcot MarieTooth disease, dominant intermediate (GNB4) D S Distal hereditary motor neuropathy, X linked (ATP7A) D S Charcot MarieTooth disease, dominant intermediate B (DNM2) D S Distal hereditary motor neuropathy, autosomal recessive (DNAJB2) D S Charcot MarieTooth disease, dominant intermediate C (YARS) H D S Erythermalgia, primary (SCN9A) H D S Charcot MarieTooth disease, dominant intermediate D (MPZ) H D S Facial paresis type 3 (HOXB1) H D S Charcot Marie Tooth type 1A (PMP22) D S Giant axonal neuropathy (GAN) H D S Charcot Marie Tooth type 1B (MPZ) D S Hereditary neuralgic amyotrophy (SEPT9) D S Charcot Marie Tooth type 1C (LITAF) D S Hereditary sensory neuropathy type IE (DNMT1) D S Charcot Marie Tooth type 1D (EGR2) D S Hereditary sensory and autonomic neuropathy type 1 (SPTLC1) H D S Charcot Marie Tooth type 1E (PMP22) H D S Hereditary sensory and autonomic neuropathy type 2 (SCN9A) D S Charcot Marie Tooth type 1F (NEFL) D S Hereditary sensory and autonomic neuropathy type 2A (WNK1) D S Charcot Marie Tooth type 2, unclassified (AARS) D S Hereditary sensory and autonomic neuropathy type 2B (FAM134B) D S Charcot Marie Tooth type 2A1 (KIF1B) D S Hereditary sensory and autonomic neuropathy type 3 (IKBKAP) D S Charcot Marie Tooth type 2A2 (MFN2) D S Hereditary sensory and autonomic neuropathy type 4 (NTRK1) D S Charcot Marie Tooth type 2B (RAB7A) D S Hereditary sensory and autonomic neuropathy type 5 (NGF) H D S Charcot Marie Tooth type 2B1 (LMNA) H D S Hereditary sensory and autonomic neuropathy type 2C (KIF1A) D S Charcot Marie Tooth type 2B2 (MED25) D S Neurodegeneration due to cerebral folate transport deficiency (FOLR1)

D S Charcot Marie Tooth type 2C (TRPV4) H D S Neuropathy with liability to pressure palsies [HNPP] (PMP22) Neuropathy with sensory ataxic, dysarthria and progressive external D S D S Charcot Marie Tooth type 2D (GARS) opthalmoplegia (C10ORF2) D S Charcot Marie Tooth type 2E (NEFL) H D S Roussy-Levy syndrome (PMP22) D S Charcot Marie Tooth type 2F (HSPB1) D S Slowed nerve conduction velocity autosomanal dominant (ARHGEF10) H D S Charcot Marie Tooth type 2I (MPZ) D S Spastic ataxia, autosomal dominant (VAMP1) H D S Charcot Marie Tooth type 2J (MPZ) D S Spinal muscular atrophy, distal, autosomal recessive type 4 (PLEKHG5) D S Charcot Marie Tooth type 2K (GDAP1) D S Spinocerebellar ataxia with axonal neuropathy, autosomal recessive (TDP1) Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy D S D S Charcot Marie Tooth type 2L (HSPB8) type (SLC25A19) D S Charcot Marie Tooth type 2O (DYNC1H1) D S 46,XY, Partial gonadal dysgenesis with minifascicular neuropathy (DHH)

Page 15/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 5. NEUROMUSCULAR & DEVELOPMENTAL DELAY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Hereditary Spastic Paraplegias

NGS Panels:

D S Spastic paraplegia panel, autosomal dominant (ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, R N2, SLC33A1, SPAST, ZFYVE27) D S Spastic paraplegia panel, autosomal recessive (AP4M1, CYP2U1, CYP7B1, DDHD1, FA2H, GJC2, KIF1A, PNPLA6, SPG11, SPG20, SPG21, SPG7, ZFYVE26) Single genes:

H D S Spastic paraplegia type 5A, autosomal recessive (CYP7B1) H D S Spastic paraplegia type 3A, autosomal dominant (ATL1) H D S Spastic paraplegia type 7, autosomal recessive (SPG7) H D S Spastic paraplegia type 4, autosomal dominant (SPAST) H D S Spastic paraplegia type 11, autosomal recessive (SPG11) H D S Spastic paraplegia type 6, autosomal dominant (NIPA1) D S Spastic paraplegia type 15, autosomal recessive (ZFYVE26) D S Spastic paraplegia type 8, autosomal dominant (KIAA0196) H D S Spastic paraplegia type 20, autosomal recessive (SPG20) H D S Spastic paraplegia type 10, autosomal dominant (KIF5A) H D S Spastic paraplegia type 21, autosomal recessive (SPG21) D S Spastic paraplegia type 12, autosomal dominant (RTN2) D S Spastic paraplegia type 28, autosomal recessive (DDHD1) H D S Spastic paraplegia type 13, autosomal dominant (HSPD1) H D S Spastic paraplegia type 30, autosomal recessive (KIF1A) H D S Spastic paraplegia type 17, autosomal dominant (BSCL2) H D S Spastic paraplegia type 35, autosomal recessive (FA2H) D S Spastic paraplegia type 31, autosomal dominant (REEP1) H D S Spastic paraplegia type 39, autosomal recessive (PNPLA6) H D S Spastic paraplegia type 33, autosomal dominant (ZFYVE27) D S Spastic paraplegia type 44, autosomal recessive (GJC2) H D S Spastic paraplegia type 42, autosomal dominant (SLC33A1) D S Spastic paraplegia type 47, autosomal recessive (AP4B1) D S Spastic paraplegia type 1, X-linked (L1CAM) D S Spastic paraplegia type 50, autosomal recessive (AP4M1) D S Spastic paraplegia type 2, X-linked (PLP1) D S Spastic paraplegia type 56, autosomal recessive (CYP2U1)

Non-Ataxic Movement Disorders

NGS Panels: D S Dystonia panel (TOR1A, THAP1, GCH1, TH, SPR, SLC2A1, CIZ1, PRRT2, PNKD) D S Dopa-Responsive Dystonia panel (GCH1, SPR,TH) D S Parkinsons disease panel (SNCA, LRRK2, VPS35, PARK2, PINK1, PARK7, ATP13A2, PLA2G6, FBXO7, DNAJC6) Single genes:

D S Cervical dystonia (CIZ1) E R Huntington disease (HTT) D S Chorea, hereditary benign (NKX2-1) H S Huntington disease-like type 1 (PRNP) D S Choreoacanthocytosis (VPS13A) E R Huntington disease-like type 2 (JPH3) D S Corticobasal Degeneration, CFL1 related D S McLeod syndrome with or without chronic granulomatous disease (XK) D S Dystonia, juvenile-onset (ACTB) D S Mirror movements, congenital (RAD51) D S Dystonia, DOPA-responsive, autosomal recessive (SPR) D S Myoclonic dystonia/DYT11 (DRD2) D S Dystonia 1 (TOR1A) D S Paroxysmal nonkinesigenic dyskinesia (PNKD) D S Dystonia 3 (TAF1) H D S Parkinson Disease, PARK1, autosomal dominant (SNCA) D S Dystonia 4 (TUBB4A) H D S Parkinson Disease, PARK2, autosomal recessive (PARK2) D S Dystonia 5A (GCH1) D S Parkinson Disease, PARK5, autosomal dominant (UCHL1) D S Dystonia 5A (TH) D S Parkinson Disease, PARK6, autosomal recessive (PINK1) D S Dystonia 6 (THAP1) D S Parkinson Disease, PARK7, autosomal recessive (PARK7) H D S Dystonia 8 (SLC2A1) D S Parkinson Disease, PARK8, autosomal dominant (LRRK2) D S Dystonia 10 (PRRT2) D S Parkinson Disease, PARK9, autosomal recessive (ATP13A2) D S Dystonia 11 (SGCE) D S Parkinson Disease, PARK14, autosomal recessive (PLA2G6) D S Dystonia 12 (ATP1A3) D S Parkinson Disease, PARK15, autosomal recessive (FBXO7) D S Dystonia 16 (PRKRA) D S Parkinson Disease, PARK19, autosomal recessive (DNAJC6) H D S Dystonia 18 (SLC2A1) D S Parkinson Disease, PARK13, autosomal dominant (HTRA2) D S Dystonia 24 (ANO3) D S Parkinson Disease, PARK17, autosomal dominant (VPS35) D S Dystonia 25 (GNAL) D S Parkinson Disease, PARK20, autosomal recessive (SYNJ1) D S Dyskinesia, familial, with facial myokymia (ADCY5) D S Parkinsonism-Dystonia, infantile (SLC6A3) D S Essential hereditary tremor type 4 (FUS)

Dementias

NGS Panels:

D S Alzheimer dementia and dementia panel (APOE, APP, PRNP, PSEN1, PSEN2, SORL1, TREM2) R S Dementia panel (APOE, APP, C9 rf72, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SORL1, TARDBP, TREM2, UBE3A, VCP) D S Frontotemporal dementia panel (CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72 , MAPT, SIGMAR1, UBQLN2)

Page 16/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 5. NEUROMUSCULAR & DEVELOPMENTAL DELAY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Dementias (continued) Single genes:

D S Alzheimer disease type 1 (APP) D S Alzheimers disease, early onset, autosomal dominant (SORL1)

H D S Alzheimer disease type 3 (PSEN1) D S Angelman syndrome (UBE3A)

D S Alzheimer disease type 4 (PSEN2) D Angelman syndrome (chr. 15q11)

D S Cerebral amyloid angiopathy (CST3) D S Dementia, frontotemporal (TARDBP) H D S Creutzfeldt-Jakob disease (PRNP) H D S Dementia, frontotemporal (PSEN1) D S Creutzfeldt-Jakob disease, resistance to (HLA-DQA1) H D S Fatal familial imsomnia (PRNP) D S Creutzfeldt-Jakob disease, resistance to (HLA-DQB1) H D S Gerstmann-Straussler disease (PRNP) Peripheral demyelinating neuropathy Waardenburg syndrome & Hirschsprung D S D S Dementia, frontotemporal (GRN) disease (SOX10) D S Dementia, frontotemporal (MAPT) D S Pick disease (PSEN1)

Ataxias and Trinucleotide Expansion Diseases

NGS Panels:

D S Cerebellar ataxia panel (ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, SACS, SETX, SYNE1, TTPA, VLDLR) D S Episodic ataxia panel (CACNA1A, CACNB4, KCNA1, SLC1A3) D S Familial hemiplegic migraine panel (ATP1A2, CACNA1A, SCN1A) (ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN10, BEAN1, ATN1, CACNA1A, NOP56, PPP2R2B, TBP, AFG3L2, DNMT1, FGF14, IFRD1, R S SCA panel ITPR1, KCNC3, KCND3, PDYN, PRKCG, SPTBN2, TGM6, TTBK2, VAMP1) Single genes:

R D S E Amyotrophic lateral sclerosis with frontotemporal dementia (C9orf72) Salih ataxia (KIAA0226) D S Ataxia and muscle hypotonia (COX20) D S Spastic ataxia Charlevoix-Saguenay type (SACS) D S Ataxia-oculomotor apraxia type 1 (APTX) E R Spinal and bulbar muscular atrophy X-linked (AR) D S Ataxia-oculomotor apraxia type 2 (SETX) D S Spinocerebellar ataxia infantile-onset (C10ORF2) D S Ataxia-oculomotor apraxia type 3 (PIK3R5) D S Spinocerebellar ataxia type 7, autosomal recessive (TPP1) D S Ataxia, posterior column, with retinitis pigmentosa (FLVCR1) D S Spinocerebellar ataxia type 9, autosomal rececssive (ADCK3) D S Ataxia-telangiectasia (ATM) D S Spinocerebellar ataxia type 10, autosomal recessive (ANO10) D S Ataxia telangiectasia like disorder (MRE11A) D S Spinocerebellar ataxia type 13, autosomal recessive (GRM1) D S Cerebellar ataxia (CP) E R Spinocerebellar ataxia type 1, autosomal dominant (ATXN1) D S Cerebellar ataxia, autosomal recessive (SYNE1) E R Spinocerebellar ataxia type 2, autosomal dominant (ATXN2) D S Cerebellar ataxia with deafness and narcolepsy, autosomal recessive (DNMT1) E R Spinocerebellar ataxia type 3, autosomal dominant (ATXN3) D S Cerebellar ataxia with spasticity (GBA2) D S Spinocerebellar ataxia type 4, autosomal dominant (PLEKHG4) Cerebellar ataxia with mental retardation and disequilibrium syndrome type 2 D S D S (WDR81) Spinocerebellar ataxia type 5, autosomal dominant (SPTBN2) D S Coenzyme Q10 deficiency type 1 (COQ2) E R Spinocerebellar ataxia type 6, autosomal dominant (CACNA1A) D S Coenzyme Q10 deficiency type 2 (PDSS1) E R Spinocerebellar ataxia type 7, autosomal dominant (ATXN7) D S Coenzyme Q10 deficiency type 3 (PDSS2) E R Spinocerebellar ataxia type 8, autosomal dominant (ATXN8) D S Coenzyme Q10 deficiency type 5 (COQ9) E R Spinocerebellar ataxia type 10, autosomal dominant (ATXN10) E R Dentatorubral-pallidoluysian atrophy (ATN1) D S Spinocerebellar ataxia type 11, autosomal dominant (TTBK2) D S Episodic ataxia type 1 (KCNA1) E R Spinocerebellar ataxia type 12, autosomal dominant (PPP2R2B) H D S Episodic ataxia type 2 (CACNA1A) D S Spinocerebellar ataxia type 13, autosomal dominant (KCNC3) D S Episodic ataxia type 5 (CACNB4) D S Spinocerebellar ataxia type 14, autosomal dominant (PRKCG) D S Episodic ataxia type 6 (SLC1A3) D S Spinocerebellar ataxia type 15, autosomal dominant (ITPR1) H D S Familial hemiplegic migraine type 1 (CACNA1A) E R Spinocerebellar ataxia type 17, autosomal dominant (TBP) D S Familial hemiplegic migraine type 2 (ATP1A2) D S Spinocerebellar ataxia type 18, autosomal dominant (IFRD1) D S Familial hemiplegic migraine type 3 (SCN1A) D S Spinocerebellar ataxia type 22, autosomal dominant (KCND3) R S Fragile X syndrome (FMR1) R S Spinocerebellar ataxia type 23, autosomal dominant (PDYN) R S Friedreich ataxia (FXN) D S Spinocerebellar ataxia type 27, autosomal dominant (FGF14) E R Huntington disease (HTT) D S Spinocerebellar ataxia type 28, autosomal dominant (AFG3L2) H S Huntington disease-like type 1 (PRNP) D S Spinocerebellar ataxia type 29, autosomal dominant (ITPR1) E R Huntington disease-like type 2 (JPH3) E R Spinocerebellar ataxia type 31, autosomal dominant (BEAN1) D S Infantile neuroaxonal dystrophy type I (PLA2G6) D S Spinocerebellar ataxia type 35, autosomal dominant (TGM6) E R Myotonic dystrophy type 1 (DMPK) E R Spinocerebellar ataxia type 36, autosomal dominant (NOP56) R D S E Myotonic dystrophy type 2 (CNBP) Spinocerebellar ataxia with axonal neuropathy, autosomal recessive (TDP1) R S Muscular dystrophy, oculopharyngeal (PABPN1) D S Vitamin E familial deficiency (TTPA)

Page 17/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 5. NEUROMUSCULAR & DEVELOPMENTAL DELAY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Muscular Disorders

NGS Panels:

S (COL6A1, COL6A2, COL6A3, COL12A1) Bethlem myopathy panel D S Congenital myasthenic syndrome panel (AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A) (ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SEPN1, D S Congenital myopathy panel TNNT1, TPM2, TPM3) (ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF, FKRP, FKTN, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, D S Limb-girdle muscular dystrophy panel SGCD, SGCG, TCAP, TRIM32, TTN (hot Spot testing)) D S Malignant hyperthermia panel (CACNA1S, RYR1) (ABHD5, ACADVL, AGL, CPT2, ENO3, ETFA, ETFB, ETFDH, GAA, GBE1, GYG1, GYS1, LDHA, LPIN1, PFKM, PGAM2, PGK1, D S Metabolic myopathies panel PGM1, PHKA1, PNPLA2, PRKAG2, PYGM, SLC22A5, SLC25A20, TAZ D S Myofibrillar myopathy panel (BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT) (ACADL, ACADM, ACADVL, ACAD9, AGL, AMPD1, C10orf2, CPT1B, CPT2, ETFA, ETFB, GAA, GYS1, HADHA, HADHB, LPIN1, D S Myopathy-rhabdomyolysis syndrome panel OPA1, OPA3, PFKM, PGAM2, PGM1, PHKA1, POLG, POLG2, PYGM, RRM2B, SUCLA2, TK2, TYMP) (NEB, ACTA1, CFL2, MTM1, TNNT1, TPM2, TPM3) S Nemaline myopathy panel Neuronal migration disorders panel (ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, GPR56, IER3IP1, D S ISPD, LAMA2, LAMC3, LARGE, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62) D S Ullrich muscular dystrophy panel (COL6A1, COL6A2, COL6A3) D S Walker-Warburg syndrome panel (FKRP, FKTN, ISPD, LARGE, POMT1, POMT2) Single genes: D S Bethlem myopathy (COL6A1) D S Limb-girdle muscular dystrophy, autosomal recessive type 2I (FKRP) D S Bethlem myopathy (COL6A2) E D Limb-Girdle Muscular Dystrophy, autosomal recessive type 2J (TTN) D S Bethlem myopathy (COL6A3) D S Limb-girdle muscular dystrophy, autosomal recessive type 2K (POMT1)

D S Bethlem myopathy (COL12A1) D S Limb-girdle muscular dystrophy, autosomal recessive type 2L (ANO5)

D S Brody myopathy (ATP2A1) D S Limb-girdle muscular dystrophy, autosomal recessive type 2M (FKTN)

D S Central core disease of muscle (RYR1) D S Limb-girdle muscular dystrophy, autosomal recessive type 2N (POMT1)

D S Centronuclear myopathy (DNM2) D S Limb-girdle muscular dystrophy, autosomal recessive type 2P (DAG1)

D S Centronuclear myopathy type 1 (MTMR14) D S Malignant hyperthermia (RYR1)

D S Centronuclear myopathy type 2 (BIN1) H D S Malignant hyperthermia type 5 (CACNA1S)

D S Centronuclear myopathy type 3 (MYF6) D S Minicore myopathy with external ophthalmoplegia (RYR1)

D S Centronuclear myopathy type 4 (CCDC78) D S Miyoshi myopathy (DYSF)

D S Compton-North congenital myopathy (CNTN1) D S Muscle hypertrophy (MSTN)

D S Congenital muscular dystrophy and hypoglycosylation of a-dystroglycan (B3GALNT2) D S Muscular dystrophy type 1A (LAMA2)

H D S Creatine phosphokinase, elevated serum (CAV3) D S Muscular dystrophy type 1C (FKRP) Congenital muscular dystrophy-dystroglycanopathy with brain and eye D S D S Muscular dystrophy type 1D (LARGE) anomalies,type A (POMGNT1) Congenital muscular dystrophy-dystroglycanopathy with brain and eye D S D S Muscular dystrophy, Becker type (DMD) anomalies,type A13 (B3GNT1) D S Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2) D S Muscular dystrophy, Duchenne type (DMD)

D S Emery-Dreifuss muscular dystrophy type 1 (EMD) R S Muscular dystrophy, oculopharyngeal (PABPN1)

H D S Emery-Dreifuss muscular dystrophy type 2 (LMNA) D S Myasthenic syndrome, congenital (CHRNE) D S Emery-Dreifuss muscular dystrophy type 4 (SYNE1) D S Myasthenic syndrome, congenital (CHAT)

D S Emery-Dreifuss muscular dystrophy type 5 (SYNE2) D S Myasthenic syndrome, congenital (CHRNB1)

Myasthenic syndrome, congenital, associated with acetylcholine receptor D S Emery-Dreifuss muscular dystrophy type 6 (FHL1) D S deficiency (RAPSN) D S Endplate acetylcholinesterase deficiency (COLQ) D S Myasthenia syndrome, congenital with tubular aggregates 1 (GFPT1)

D S Epidermolysis bullosa simplex with muscular dystrophy (PLEC) D S Myasthenic syndrome fast channel congenital (CHRNA1)

D S Epidermolysis bullosa simplex, autosomal recessive (DST) D S Myasthenic syndrome fast channel congenital (CHRND)

D S Fibrodysplasia ossificans progressiva (ACVR1) D S Myasthenic syndrome slow-channel congenital (CHRNA1)

D Facioscapulohumeral muscular dystrophy type 1 (D4Z4) D S Myasthenic syndrome slow-channel congenital (CHRND)

D S Filaminopathy (FLNC) D S Myasthenia syndrome, familial limb-girdle (AGRN)

Myasthenic syndrome associated with acetylcholine receptor deficiency D S Fukuyama congenital muscular dystrophy (FKTN) D S (MUSK) E D Hereditary myopathy with early respiratory failure (TTN) D S Myasthenic syndrome due to mutation in SCN4A (SCN4A)

D S Hyperkalemic periodic paralysis (SCN4A) D S Myoglobinuria acute recurrent (LPIN1)

Myopathy, desmin-related, associated with mutation in the CRYAB gene H D S Hypokalemic periodic paralysis type 1 (CACNA1S) D S (CRYAB) D S Inclusion body myopathy (GNE) H D S Myopathy, distal type 1 (MYH7)

D S Inclusion body myopathy (MYH2) D S Myopathy, distal type 2 (MATR3)

D S Limb-girdle muscular dystrophy, autosomal dominant type 1A (MYOT) D S Myopathy, distal type 4 (FLNC)

H D S Limb-girdle muscular dystrophy, autosomal dominant type 1B (LMNA) H D S Limb-girdle muscular dystrophy, autosomal dominant type 1C (CAV3) D S Myopathy, distal with anterior tibial onset (DYSF) D S Limb-girdle muscular dystrophy, autosomal dominant type 1E (DNAJB6) H D S Myopathy, distal with decreased Caveolin 3 (CAV3)

D S Limb-girdle muscular dystrophy, autosomal recessive type 2A (CAPN3) D S Myopathy due to Integrin 7A deficiency (ITGA7)

D S Limb-girdle muscular dystrophy, autosomal recessive type 2B (DYSF) E D Myopathy, early-onset with fatal cardiomyopathy (TTN)

D S Limb-girdle muscular dystrophy, autosomal recessive type 2C (SGCG) D S Myopathy limb girdle with bone fragility (MTAP)

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, D S Limb-girdle muscular dystrophy, autosomal recessive type 2D (SGCA) D S and developmental delay (GFER) D S Limb-girdle muscular dystrophy, autosomal recessive type 2E (SGCB) D S Myopathy, myofibrillar 6 (BAG3) D S Limb-girdle muscular dystrophy, autosomal recessice type 2F (SGCD) H D S Myopathy, myofibrillar, Desmin-related (DES) D S Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G (TCAP) D S Myopathy, myofibrillar, ZASP-related (LDB3) H D S Limb-girdle muscular dystrophy, autosomal recessive type 2H (TRIM32) D S Myopathy with fiber-type disproportion (ACTA1) Page 18/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 5. NEUROMUSCULAR & DEVELOPMENTAL DELAY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Muscular Disorders (continued)

D S Myopathy with fiber-type disproportion (SEPN1) H D S Rippling muscle disease (CAV3) D S Myosclerosis, autosomal recessive (COL6A2) S RYR1 Next Generation Sequencing (RYR1) H D S Myosin storage myopathy (MYH7) H D S Scapuloperoneal myopathy, MYH7 related (MYH7) D S Myotilinopathy (MYOT) D S Schwartz-Jampel syndrome (HSPG2) D S Myotonia congenita (CLCN1) D S Spheroid body myopathy (MYOT) E R Myotonic dystrophy type 1 (DMPK) D S Spinal muscular atrophy (SMA) (SMN1) E R Myotonic dystrophy type 2 (CNBP) D Spinal muscular atrophy (SMA), NAIP related (NAIP) D S Myotubular myopathy X-linked (MTM1) D S Spinal muscular atrophy (SMA), type 3 (SMN2) S NEB Next Generation Sequencing (NEB) D S Spinal muscular atrophy, distal, X-linked (ATP7A) D S Nemaline myopathy type 1 (TPM3) D S Spinal muscular atrophy, lower extremity, autosomal dominant type 1 (DYNC1H1) D S Nemaline myopathy type 3 (ACTA1) D S Spinal muscular atrophy, lower extremity, autosomal dominant type 2 (BICD2) D S Nemaline myopathy type 4 (TPM2) S SYNE1 Next Generation Sequencing (SYNE1) D S Nemaline myopathy type 5 (TNNT1) S SYNE2 Next Generation Sequencing (SYNE2) D S Nemaline myopathy type 6 (KBTBD13) H D S Thyrotoxic periodic paralysis type 1 (CACNA1S) D S Nemaline myopathy type 7 (CFL2) D S Thyrotoxic periodic paralysis type 2 (KCNJ18) H D S Neurogenic scapuloperoneal syndrome, Kaeser type (DES) D S Tibial muscular dystrophy, tardive (LDB3) D S Neuromyotonia and axonal neuropathy, autosomal recessive (HINT1) E D Tibial muscular dystrophy, tardive (TTN) D S Neutral lipid storage disease with myopathy (PNPLA2) D S Ullrich congenital muscular dystrophy (COL6A1) D S Nonaka myopathy (GNE) D S Ullrich congenital muscular dystrophy (COL6A2) D S Paramyotonia congenita of von Eulenburg (SCN4A) D S Ullrich congenital muscular dystrophy (COL6A3) D S Pompe disease (GAA) D S Walker-Warburg syndrome (FKRP) D S Pontocerebellar hypoplasia type 6 (RARS2) D S Walker-Warburg syndrome (FKTN) D S Potassium-aggravated myotonia (SCN4A) D S Walker-Warburg syndrome (ISPD) D S Rigid spine muscular dystrophy (SEPN1) D S Walker-Warburg syndrome (POMT2)

Mitochondrial Disorders

NGS Panels: (ACAD9, ADCK3, AIFM1, APTX, ATPAF2, BCS1L, C10ORF2, NDUFAF6, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, Leigh syndrome and mitochondrial DLAT, DLD, DNM1L, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, GFM1, LRPPRC, MPV17, NDUFA1, NDUFA10, NDUFA11, NDUFA2, D S NDUFA13, NDUFAF1, NDUFAF2, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, encephalopathy panel NDUFA12, NDUFA9, NDUFAF5, SDHA, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, RARS2, SCO1, SCO2, SDHAF1, SUCLA2, SUCLG1, SURF1, TACO1, TK2, TMEM70, TSFM, TTC19, TUFM, TYMP) (C10ORF2, DGUOK, MPV17, MT-ND1, MT-ND5, MT-ND6, MT-TH, MT-TF, MT-TL1, MT-TK, MT-TP, MT-TQ, MT-TS1, MT-TS2, PC, POLG, PUS1, D S Mitochondrial dysfunctions panel RRM2B , SUCLA2, SUCLG1, TK2,TYMP)

Single genes:

Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission D S D S Mitochondrial complex I deficiency (FOXRED1) (DNM1L) D S Leigh syndrome (MTND3) D S Mitochondrial complex I deficiency (NDUFA1) D S Leigh syndrome (BCS1L) D S Mitochondrial complex I deficiency (NDUFA11) D S Leigh syndrome (NDUFAF6) D S Mitochondrial complex I deficiency (NDUFAF1) D S Leigh syndrome (COX15) D S Mitochondrial complex I deficiency (NDUFAF3) D S Leigh syndrome (FOXRED1) D S Mitochondrial complex I deficiency (NDUFAF4) D S Leigh syndrome (NUBPL) D S Mitochondrial complex I deficiency (NDUFAF5) D S Leigh syndrome (NDUFA10) D S Mitochondrial complex I deficiency (NDUFB3) D S Leigh syndrome (NDUFA2) D S Mitochondrial complex I deficiency (NDUFS1) D S Leigh syndrome (NDUFAF1) D S Mitochondrial complex I deficiency (NDUFS2) D S Leigh syndrome (NDUFAF2) D S Mitochondrial complex I deficiency (NDUFS4) D S Leigh syndrome (NDUFAF3) D S Mitochondrial complex I deficiency (NDUFS6) D S Leigh syndrome (NDUFA9) D S Mitochondrial complex I deficiency (NDUFV1) D S Leigh syndrome (NDUFA13) D S Mitochondrial complex I deficiency (NDUFV2) D S Leigh syndrome (NDUFS3) D S Mitochondrial complex II deficiency (SDHAF1) D S Leigh syndrome (NDUFS4) D S Mitochondrial complex III deficiency (BCS1L) D S Leigh syndrome (NDUFS7) D S Mitochondrial complex III deficiency (TTC19) D S Leigh syndrome (NDUFS8) D S Mitochondrial complex III deficiency (UQCRB) D S Leigh syndrome and mitochondrial encephalopathy (ACAD9) D S Mitochondrial complex III deficiency (UQCRC2) D S Leigh syndrome due to COX deficiency (SURF1) D S Mitochondrial complex III deficiency (UQCRQ) D S Leigh syndrome due to pyruvate carboxylase deficiency (PC) D S Mitochondrial complex IV deficiency (FASTKD2) D S Leigh syndrome due to mitochondrial complex I deficiency (NDUFA12) D S Mitochondrial complex V (ATP synthase) deficiency (MT-ATP6) D S Leigh syndrome due to the mitochondrial complex IV deficiency (TACO1) D S Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (ATPAF2) D S Leigh syndrome, French-Canadian type (LRPPRC) D S Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70) D S Leigh syndrome, X-linked (PDHA1) D S Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (ATP5E) E D MERRF syndrome (MT-TK) D S Mitochondrial DNA depletion syndrome (C10ORF2) E MERRF, 2. level m8356, m8363, m8361 in MTTK, m611, m15967 in MTTP (MT-TP) D S Mitochondrial DNA depletion syndrome (DGUOK) D S Metachromatic leukodystrophy due to Saposin B deficiency (PSAP) D S Mitochondrial DNA depletion syndrome (RRM2B)

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GENETIC TESTING REQUISITION 5. NEUROMUSCULAR & DEVELOPMENTAL DELAY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Mitochondrial Disorders (continued)

Progressive mitochondrial myopathy with congenital cataract, hearing loss, and D S Mitochondrial DNA depletion syndrome (SUCLA2) D S developmental delay (GFER) Mitochondrial neurogastrointestinal encephalopathy syndrome without D S Mitochondrial DNA depletion syndrome (TK2) H D S leukoencephalopathy (POLG) Mitochondrial neurogastrointestinal encephalopathy syndrome without D S Mitochondrial DNA depletion syndrome type 4A (POLG) D S H leukoencephalopathy (TYMP) D S Mitochondrial DNA depletion syndrome type 6 (MPV17) D S Mitochondrial respiratory chain disease, TIMM21-related (TIMM21) Progressive external ophthalmoplegia with mitochondrial deletions autosomal D S Mitochondrial DNA depletion syndrome type 11 ( MGME1) H S D recessive (POLG) D S Mitochondrial DNA depletion syndrome type ( FBXL4) H S D Progressive external ophthalmoplegia with mitochondrial deletions type 1 (POLG) Mitochondrial DNA depletion syndrome, encephalomyopathic type with D S D S Progressive external ophthalmoplegia with mitochondrial deletions type 2 (SLC25A4) methylmalonic aciduria (SUCLG1) D S Mitochondrial encephalopathy (VDAC1) S D Progressive external ophthalmoplegia with mitochondrial deletions type 3 (C10ORF2)

Mitochondrial encephalopathy, progressive with proximal renal tubulopathy D S S D Progressive external ophthalmoplegia with mitochondrial deletions type 4 (POLG2) due to cytochrome c oxidase deficiency (COX10) D S Mitochondrial encephalomyopathy (MT-CYB) S D Progressive external ophthalmoplegia with mitochondrial deletions type 5 (RRM2B)

D S Mitochondrial encephalomyopathy (MT-TL2) S D Progressive external ophthalmoplegia with mitochondrial deletions type 6 (DNA2)

D S Mitochondrial encephalomyopathy (MFF)

Epilepsies

NGS Panels: D S Absence epilepsy in childhood panel (CACNA1H, GABRA1, GABRB3, GABRG2, JRK, SLC2A1) D S Dravet syndrome panel (SCN1A, GABRG2, SCN2A, SCN9A) Early infantile epileptic encephalopathy D S (ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, SCN1A, KCNQ2, KCNT1, ARHGEF9, PCDH19, PNKP, SCN2A, SCN8A, PLCB1) panel Epileptic encephalopathy panel (ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC, GRIN2A, GRIN2B, KCNJ10, KCNQ2, MAGI2, MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, RNASEH2A, D S RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC19A3, SLC25A22, SLC2A1, SLC9A6, SPTAN1, SRGAP2, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2) Generalized epilepsy with febrile D S (GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A) seizures panel (CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, DEPDC5, EFHC1, GABRA1, GABRB3, GABRD, GABRG2, D S Hereditary partial epilepsy panel JRK, KCNMA1, KCNQ2, KCNQ3, LGI1, MTATP6 , SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SRPX2) D S Hyperekplexia panel (ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5) Single genes:

D S Amish infantile epilepsy syndrome (ST3GAL5) D S Early infantile epileptic encephalopathy type 20 (PIGA) D S Autosomal dominant lateral temporal lobe epilepsy (LGI1) D S Early infantile epileptic encephalopathy type 25 (SLC13A5) D S Benign familial neonatal-infantile seizures (SCN2A) D S Epileptic encephalopathy (MAGI2) D S Benign familial neonatal seizures (KCNQ2) D S Epileptic encephalopathy, Lennox-Gastaut type (MAPK10) D S Benign familial neonatal seizures (KCNQ3) D S Epilepsy with neurodevelopmental defects (GRIN2A) D S Childhood absence epilepsy type 2 (GABRG2) D S Familial focal epilepsy with variable foci (DEPDC5) D S Childhood absence epilepsy type 4 (GABRA1) D S Familial temporal lobe epilepsy type 5 (CPA6) D S Childhood absence epilepsy type 5 (GABRB3) D S Familial infantile myoclonic epilepsy (TBC1D24) D S Childhood absence epilepsy type 6 (CACNA1H) D S Generalized epilepsy and paroxysmal dyskinesia (KCNMA1) D S Childhood absence epilepsy, JRK related (JRK) D S Generalized epilepsy with febrile seizures plus type 1 (SCN1B) D S Cortical dysplasia-focal epilepsy syndrome (CNTNAP2) D S Generalized epilepsy with febrile seizures plus type 2 (SCN1A) D S Dravet syndrome (GABRG2) D S Generalized epilepsy with febrile seizures plus type 3 (GABRG2) D S Dravet syndrome (SCN2A) D S Generalized epilepsy with febrile seizures plus type 5 (GABRD) H D S Dravet syndrome (SCN9A) H D S Generalized epilepsy with febrile seizures plus type 7 (SCN9A) D S Early infantile epileptic encephalopathy type 1 (ARX) H D S Glucose transporter type 1 deficiency syndrome (SLC2A1) D S Early infantile epileptic encephalopathy type 2 (CDKL5) D S Hyperekplexia (GLRA1) D S Early infantile epileptic encephalopathy type 3 (SLC25A22) D S Hyperekplexia (GLRB) D S Early infantile epileptic encephalopathy type 4 (STXBP1) D S Hyperekplexia (SLC6A5) D S Early infantile epileptic encephalopathy type 5 (SPTAN1) D S Hyperekplexia (GPHN) D S Early infantile epileptic encephalopathy type 6 (SCN1A) D S Hyperekplexia (ARHGEF9) D S Early infantile epileptic encephalopathy type 7 (KCNQ2) D S Idiopathic generalized epilepsy type 10 (GABRD) D S Early infantile epileptic encephalopathy type 8 (ARHGEF9) D S Idiopathic generalized epilepsy type 11 (CLCN2) D S Early infantile epileptic encephalopathy type 9 (PCDH19) H D S Idiopathic generalized epilepsy type 12 (SLC2A1) D S Early infantile epileptic encephalopathy type 10 (PNKP) D S Juvenile absence epilepsy type 1 (EFHC1) D S Early infantile epileptic encephalopathy type 11 (SCN2A) D S Kohlschutter Tonz syndrome (ROGDI) D S Early infantile epileptic encephalopathy type 12 (PLCB1) D S Myoclonic epilepsy of Lafora (EPM2A) D S Early infantile epileptic encephalopathy type 13 (SCN8A) D S Myoclonic epilepsy of Lafora (NHLRC1)

Page 20/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 5. NEUROMUSCULAR & DEVELOPMENTAL DELAY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Epilepsies (continued)

H D S Nocturnal frontal lobe epilepsy type 1 (CHRNA4) D S Progressive myoclonic epilepsy type 4, with or without renal failure (SCARB2) D S Nocturnal frontal lobe epilepsy type 3 (CHRNB2) D S Pyridoxine-dependent epilepsy (ALDH7A1) D S Nocturnal frontal lobe epilepsy type 4 (CHRNA2) S D Pyruvate carboxylase deficiency (PC) Paroxysmal exercise-induced dyskinesia with epilepsy and/orhemolytic anemia H D S D S Rolandic epilepsy, mental retardation, and speech dyspraxia (SRPX2) (SLC2A1) D S Polymicrogyria bilateral occipital (NR2E1) D S SESAME syndrome (KCNJ10)

D S Progressive myoclonic epilepsy type 1A (PRICKLE1) D S Unverricht-Lundborg disease (CSTB)

D S Progressive myoclonic epilepsy type 3 (KCTD7) D S X-linked epilepsy with learning disabilities and behavior disorders (SYN1)

Leukodystrophies and Other Brain Diseases

NGS Panels:

(TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1) D S Aicardi-Goutieres syndrome panel

D S Central hypoventilation syndrome panel (RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2) S (CLN3,CLN5,CLN6,CLN8,CTSD,DNAJC5,MFSD8,PPT1,TPP1) Ceroid lipofuscinosis panel (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, EXOC8, INPP5E, KIF7, MSK1, NPHP1, NPHP3, OFD1, D S Joubert syndrome panel RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423) D S Holoprosencephaly panel (CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2) Leukodystrophy and peroxisome (ABCD1, AIMP1, ARSA, ASPA, BEST1, CSF1R, CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, GALC, GFAP, GJC2, HEPACAM, HSPD1, MLC1, NDUFV1, NOTCH3, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, D S biogenesis disorders panel PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SDHA, SLC16A2, SOX10, SUMF1, TREM2, TREX1, HSD17B4, LMNB1, PEX11B, PHYH, SCP2, SDHAF1, TYROBP) (ARX, DCX, NDE1, PAFAH1B1, POMT1, POMT2, RELN, TUBA1A, YWHAE) D S Lissencephaly panel Neuronal migration disorders panel (ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, GPR56, D S IER3IP1, ISPD, LAMA2, LAMC3, LARGE, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62) Pantothenate kinase-associated (ATP13A2, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45) D S neurodegeneration panel D S Pontocerebellar hypoplasia panel (CASK, TSEN2, TSEN34, TSEN54, OPHN1, RARS2, VRK1, EXOSC3, CHMP1A) D S Tuberous sclerosis panel (TSC1, TSC2) D S Walker-Warburg syndrome panel (FKRP, FKTN, ISPD, LARGE, POMT1, POMT2) D S Waardenburg syndrome panel (EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR) S (PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26) Zellweger syndrome panel Single genes:

D S Acrocallosal syndrome (KIF7) D S Central hypoventilation syndrome, congenital (PHOX2A) D S Acyl-CoA peroxisomal oxidase deficiency (ACOX1) D S Central hypoventilation syndrome, congenital (ZEB2) D S Adrenoleukodystrophy/Adrenomyeloneuropathy (ABCD1) D S Central hypoventilation syndrome, congenital (GFRA1) D S Adrenoleukodystrophy, x-linked (PLXNB3) D S Central hypoventilation syndrome, congenital (ECE1) H D S Aicardi-Goutieres syndrome type 1 (TREX1) H D S Central hypoventilation syndrome, congenital (MECP2) Central hypoventilation syndrome with or without Hirschsprung disease D S Aicardi-Goutieres syndrome type 2 (RNASEH2B) R S H (PHOX2B) Cerebellar hypoplasia and mental retardation with or without quadrupedal D S Aicardi-Goutieres syndrome type 3 (RNASEH2C) D S H locomotion type 1 (VLDLR) H D S Aicardi-Goutieres syndrome type 4 (RNASEH2A) D S Cerebrotendinous xanthomatosis (CYP27A1) H D S Aicardi-Goutieres syndrome type 5 (SAMHD1) D S Chudley-McCullough syndrome (GPSM2) D S Aicardi-Goutieres syndrome type 7 (IFIH1) D S Cortical dysplasia, complex, with other brain malformations (TUBB3) D S Alexander disease (GFAP) D S Cortical malformations, occipital (LAMC3) D S Allan-Herndon-Dudley syndrome (SLC16A2) D S COACH syndrome (TMEM67) D S Athabaskan brainstem dysgenesis syndrome (HOXA1) D S COACH syndrome (CC2D2A) D S Band-like calcification with simplified gyration and polymicrogyria (OCLN) D S COACH syndrome (RPGRIP1L) D S Baraitser-Winter syndrome 1 (ACTB) D S Cohen syndrome (VPS13B) D S Baraitser-Winter syndrome 2 (ACTG1) D S Corpus callosum, agenesis of, with abnormal genitalia (ARX) Corpus callosum agenesis of with mental retardation ocular coloboma and D S Basal ganglia and cerebellar atrophy with hypomethylation [DYT4] (TUBB4A) D S micrognathia (IGBP1) D S Basal ganglia calcification type 3 (SLC20A2) D S Cortical dysplasia with other brain malformations, type 5 (TUBB2A) D S Basal ganglia calcification type 4 (PDGFRB) D S Donnai-Barrow syndrome (LRP2) D S Budd-Chiari syndrome (F5) D S Encephalopathy acute necrotizing type 1 (RANBP2) D S Budd-Chiari syndrome (JAK2) H D S Encephalopathy neonatal severe (MECP2) H D S CADASIL (NOTCH3) D S Encephalopathy thiamine-responsive (SLC19A3) D S Canavan disease (ASPA) D S Encephalopathy with neuroserpin inclusion bodies (SERPINI1) D S Ethylmalonic encephalopathy (ETHE1) D S Central hypoventilation syndrome (ASCL1) D S Fucosidosis (FUCA1) H D S Central hypoventilation syndrome, congenital (RET) D S Glycine encephalopathy (AMT) D S Central hypoventilation syndrome, congenital (GDNF) D S Glycine encephalopathy (GCSH) D S Central hypoventilation syndrome, congenital (EDN3) H D S Glycosylation disorder type 1C (ALG6) D S Central hypoventilation syndrome, congenital (BDNF) D S Glycosylation disorder type 1E (DPM1) D S Central hypoventilation syndrome, congenital (ASCL1) Page 21/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 5. NEUROMUSCULAR & DEVELOPMENTAL DELAY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Page 22/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 5. NEUROMUSCULAR & DEVELOPMENTAL DELAY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Leukodystrophies and Other Brain Diseases (continued)

D S Glycosylation disorder type 1J (DPAGT1) D S Lissencephaly/Subcortical laminal heteropia, X-linked (DCX) D S Glycosylation disorder type 1M (DOLK) D S Mandibulofacial dysostosis with microcephaly (EFTUD2) D S Glycosylation disorde type 2A (MGAT2) D S Megalencephalic leukoencephalopathy with subcortical cysts (MLC1) D S Glycosylation disorde type 2C (SLC35C1) D S Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM) Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome D S Glycosylation disorder type 2D (B4GALT1) D S (PIK3R2) D S Glycosylation disorder type 2E (COG7) D S Metachromatic leukodystrophy due to Saposin B deficiency (PSAP) D S Glycosylation disorder type 2F (SLC35A1) D S Miller Dieker lissencephaly syndrome (YWHAE) D S Glycosylation disorder type 2G (COG1) D S Neurodegeneration with brain iron accumulation type 4 (C19orf12) D S Glycosylation disorder type 2H (COG8) D S Neurodegeneration with brain iron accumulation type 6 (WDR45) H D S GM1-gangliosidosis (GLB1) D S Neuronal migration disorder (CTNNA2) D S Griscelli syndrome type 2 (RAB27A D S Neuronal migration disorder (EOMES) D S Hemimegalencephaly (AKT3) D S Neuronal migration disorder (SRGAP2) D S Holoprosencephaly type 2 (SIX3) D S Neuronal migration disorder (SPTBN5) D S Holoprosencephaly type 3 (SHH) D S Niemann Pick disease type C1 (NPC1) D S Holoprosencephaly type 4 (TGIF1) D S Pantothenate kinase-associated neurodegeneration (PANK2) D S Holoprosencephaly type 5 (ZIC2) D S Parietal foramina type 2 (ALX4) D S Holoprosencephaly-type 9 (GLI2) D S Pelizaeus-Merzbacher disease (PLP1) D S Holoprosencephaly type 11 (CDON) D S Pelizaeus-Merzbacher disease (SLC16A2) D S Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 (ARX) D S Pelizeaus-Merzbacher-like disease type 1 (GJC2) Hydrocephalus with aqueductal stenosis and congenital intestinal D S D S Periventricular heterotopia with microcephaly (ARFGEF2) pseudoobstraction (L1CAM) D S Hydrolethalus syndrome (HYLS1) D S Peroxisome biogenesis disorder 14B (PEX11B) H D S Joubert syndrome type 1 (INPP5E) D S Perrault syndrome (HSD17B4) Polycystic lipomembranous osteodysplasia with sclerosing D S Joubert syndrome type 2 (TMEM216) D S leukoencephalopathy (TYROBP) Polycystic lipomembranous osteodysplasia with sclerosing D S Joubert syndrome type 3 (AHI1) D S leukoencephalopathy (TREM2) D S Joubert syndrome type 4 (NPHP1) D S Polymicrogyria asymmetric (TUBB2B) D S Joubert syndrome type 5 (CEP290) D S Polymicrogyria bilateral frontoparietal (GPR56) D S Joubert syndrome type 6 (TMEM67) D S Polymicrogyria bilateral occipital (NR2E1) D S Joubert syndrome type 7 (RPGRIP1L) D S Polymicrogyria with optic nerve hypoplasia (TUBA8) D S Joubert syndrome type 8 (ARL13B) D S Polymicrogyria with seizures (RTTN) D S Joubert syndrome type 9 (CC2D2A) D S Pontocerebellar hypoplasia type 1A (VRK1) D S Joubert syndrome type 10 (OFD1) D S Pontocerebellar hypoplasia type 1B (EXOSC3) D S Joubert syndrome type 13 (TCTN1) D S Pontocerebellar hypoplasia type 2A (TSEN54) D S Joubert syndrome type 14 (TMEM237) D S Pontocerebellar hypoplasia type 4 (TSEN54) D S Joubert syndrome type 15 (CEP41) D S Pontocerebellar hypoplasia type 6 (RARS2) D S Joubert syndrome type 16 (TMEM138) D S Pontocerebellar hypoplasia type 8 (CHMP1A) D S Joubert syndrome type 17 (C5orf42) D S Porencephaly, familial (COL4A1) D S Joubert syndrome type 18 (TCTN3) D S Porencephaly 2 (COL4A2) D S Joubert syndrome type 20 (TMEM231) D S Schizencephaly (EMX2) D S Joubert syndrome type 21 (CSPP1) D S Septooptic dysplasia (HESX1) D S Joubert syndrome, EXOC8 related (EXOC8) D S Sialuria, finish type (SLC17A5) D S Joubert syndrome, EXOSC8 related (EXOSC8) D S Sjogren-Larsson syndrome (ALDH3A2) D Kearns-Sayre syndrome (mtDNA) D S Striatal degeneration (PDE88) D S Kenny-Caffey syndrome, type 2 (FAM111A) D S TANC2 - related brain disorders (TANC2) H D S Krabbe disease (GALC) H D S Tuberous sclerosis (TSC1) H D S Leukodystrophy (LAMB1) H D S Tuberous sclerosis (TSC2) D S Leukodystrophy demyelinating adult-onset, autosomal dominant (LMNB1) D S Vici syndrome (EPG5) D S Leukodystrophy hypomyelinating (GJC2) D S Waardenburg syndrome, type 2D (SNAI2) D S Leukodystrophy hypomyelinating type 3 (AIMP1) D S Waardenburg syndrome/Hirschsprung disease (EDNRB) H D S Leukodystrophy hypomyelinating type 4 (HSPD1) D S Walker-Warburg syndrome (FKRP) D S Leukodystrophy hypomyelinating type 5 (FAM126A) D S Walker-Warburg syndrome (FKTN) D S Leukodystrophy hypomyelinating type 7 (POLR3A) D S Walker-Warburg syndrome (ISPD) D S Leukodystrophy hypomyelinating type 8 (POLR3B) D S Walker-Warburg syndrome (POMT2) Leukodystrophy with dysmyelination and spastic paraparesis with or without D S D S Warburg micro syndrome type 1 (RAB3GAP1) dystonia [SPG35](FA2H) Leukoencephalopathy with brainstem and spinal cord involvement and lactate D S D S WDR27-related brain disorders (WDR27) elevation (DARS2) D S Leukoencephalopathy with dystonia and motor neuropathy (SCP2) D S Zellweger syndrome (PEX1) D S Leukoencephalopathy with vanishing white matter (EIF2B1) D S Zellweger syndrome (PEX2) D S Leukoencephalopathy with vanishing white matter (EIF2B2) D S Zellweger syndrome (PEX3) D S Leukoencephalopathy with vanishing white matter (EIF2B3) D S Zellweger syndrome (PEX5) D S Leukoencephalopathy with vanishing white matter (EIF2B4) D S Zellweger syndrome (PEX6) D S Leukoencephalopathy with vanishing white matter (EIF2B5) D S Zellweger syndrome (PEX10) D S Leukoencephalopathy, cystic without megalencephaly (RNASET2) D S Zellweger syndrome (PEX12) D S Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R) D S Zellweger syndrome (PEX13) D S Leukoencephalopathy, diffuse, CSF1-related (CSF1) D S Zellweger syndrome (PEX14) D S Lissencephaly type 1 (PAFAH1B1) D S Zellweger syndrome (PEX16) D S Lissencephaly type 2 (RELN) D S Zellweger syndrome (PEX19) D S Lissencephaly type 3 (TUBA1A) D S Zellweger syndrome (PEX26) D S Lissencephaly type 4 with microcephaly (NDE1) D S ZIC1 - related brain disorders (ZIC1) D S Lissencephaly, X-linked type 1 (DCX) D S ZIC5 - related brain disorders (ZIC5) D S Lissencephaly, X-linked type 2 (ARX) D S ZIC5 - related brain disorders (ZIC5) Page 23/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 5. NEUROMUSCULAR & DEVELOPMENTAL DELAY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Page 24/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 5. NEUROMUSCULAR & DEVELOPMENTAL DELAY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Other

NGS Panels:

Advanced Ashkenazi (Sanger) panel GBA (8 mut), CFTR (26 mut), HEXA (7mut), IKBKAP (2 mut), ASPA (4 mut), G6PC (2 mut) ABCC8 (2 mut), MCOLN1 (2 mut),

*includes BRCA1/BRCA2 analysis. To opt out, BCKDHB (3mut), FANCC (2 mut), DLD (2 mut), SMPD1 (4 mut), CLRN1 (1 mut), PCDH15 (1mut), BLM (1mut), NEB (1 mut), S please indicated in the “Test Instructions” BRCA1 (2 mut), BRCA2 (1 mut) S Autism spectrum disorders panel (EN2, MECP2, NLGN3, NLGN4X, PDE8B, RPL10) S Basic Ashkenazi (Sanger) panel (HEXA (7 mutations), IKBKAP (2 mut), ASPA (4 mut),MCOLN1 (2 mut), FANCC (2 mut), SMPD1 (4 mut), BLM (1 mut)) D S Coffin-Siris syndrome panel (ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1) Mental retardation, X-linked panel (ABCD1,ACSL4,AFF2,AGTR2,AP1S2,ARHGEF6,ARHGEF9,ARX,ATP6AP2,ATP7A,ATRX, BCOR,BRWD3,CASK,CDKL5,CUL4B,DCX,DKC1,DLG3,ELK1,FANCB,FGD1,FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HPRT1, HSD17B10,HUWE1,IDS,IGBP1, IL1RAPL1,KIAA2022,KDM5C,KLF8,L1CAM,LAMP2,MAGT1,MAOA,MBTPS2,MECP2, MED12, D S MID1,MTM1,NDP,NDUFA1,NHS,NLGN3,NLGN4X,NSDHL,NXF5,OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8,PLP1,PORCN,PQBP1, PRPS1,RAB39B,RPL10,RPS6KA3,SHROOM4,SLC16A2,SLC6A8,SLC9A6,SMC1A, SMS, SOX3, SRPX2, SYN1,SYP,TIMM8A,TSPAN7,UBE2A,UPF3B,ZCCHC12,ZDHHC9, ZDHHC15,ZNF41,ZNF81,ZNF674,ZNF711) (AKT3, AP4M1, ASPM, CASK, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, DNM1L, EFTUD2, IER3IP1, KIF11, MCPH1, MRE11A, D S Microcephaly panel MSMO1, NDE1, NHEJ1, NR2E1, PAFAH1B1, PCNT, PNKP, POMT1, SLC25A19, STIL, TUBB2B, TUBGCP6, WDR62) Single genes:

H D S Achalasia addisonianism alacrimia syndrome (AAAS) D S FG syndrome type 2 (FLNA) D S Alacrima, achalasia and mental retardation syndrome (GMPPA) D S FG syndrome type 4 (CASK) D S Allan-Herndon-Dudley syndrome (SLC16A2) R S Fragile X tremor/ataxia syndrome (FMR1) D S Alazami syndrome (LARP7) D S Frontometaphyseal dysplasia (FLNA) H D S Angelman-like syndrome (MECP2) D S Heterotopia, periventricular, ED variant (FLNA) D S Angelman-like syndrome (CDKL5) D S Heterotopia, periventricular, X-linked dominant (FLNA) H D S Arts syndrome (PRPS1) D S Hoyeraal-Hreidarsson syndrome (DKC1) D S Asperger syndrome susceptibility X-linked type 2 (NLGN3) D S Hyperphosphatasia with mental retardation syndrome 2 (PIGO) D S Attention deficit-hyperactivity disorder (DRD4) H D S Insensitivity to pain, channelopathy-associated (SCN9A) D S Attention deficit-hyperactivity disorder (DRD5) D S Intellectual disability nonsyndromic (CUX2) D S Autism spectrum disorder (AHNAK2) D S Intellectual disability nonsyndromic, CIC-related (CIC) D S Autism spectrum disorder (ANKS3) D S Jawad syndrome (RBBP8) D S Autism spectrum disorder (BPIFA3 D S Jensen syndrome (TIMM8A) D S Autism spectrum disorder ) (EN2) D S Kabuki syndrome type 1 (KMT2D) D S Autism spectrum disorder (RABGGTA) D S Kabuki syndrome type 2 (KDM6A) D S Autism, ATP1B4 related (ATP1B4) D S Kleefstra syndrome (EHMT1) D S Autism, FCRL6 related (FCRL6) D S Koolen syndrome (KANSL1) D S Autism, MBD1-related (MBD1) D S Lesch-Nyhan syndrome (HPRT1) D S Autism, OR13H1-related (OR13H1) D S Lowe oculocerebrorenal syndrome (OCRL) D S Autism susceptibility, X-linked type 1 (NLGN3) D S Lujan-Fryns syndrome (MED12) D S Autism susceptibility, X-linked type 2 (NLGN4X) D S Major affective disorder (CUTL2) H D S Autism susceptibility, X-linked type 3 (MECP2) D S MASA syndrome (L1CAM) D S Autism susceptibility, X-linked type 5 (RPL10) D S Martsolf syndrome (RAB3GAP2) D S Autism susceptibility, x-linked type 17 (SHANK2) D S Melnick-Needles syndrome (FLNA) D S Bainbridge-Ropers syndrome (ASXL3) S Mental retardation (ATP8A2) D S Bohring-Opitz syndrome (ASXL1) D S Mental retardation non-syndromic (ELK1) D S Borjeson-Forssman-Lehmann syndrome (PHF6) D S Mental retardation non-syndromic (KLF8) D S Brunner syndrome (MAOA) H D S Mental retardation non-syndromic (NXF5) Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome D S D S Mental retardation non-syndromic (ZCCHC12) (SNAP29) Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2 D S Cerebrooculofacioskeletal syndrome type 1 (ERCC6) D S (WDR81) D S Cerebrooculofacioskeletal syndrome type 4 (ERCC1) D S Mental retardation with hypotonic facies syndrome, X-linked (ATRX) Mental retardation and microcephaly with pontine and cerebellar hypoplasia D S CHARGE syndrome (CHD7) D S (CASK) D S CHIME syndrome (PIGL) D S Mental retardation, autosomal recessive type 3 (CC2D1A) D S CHILD syndrome (NSDHL) D S Mental retardation, autosomal recessive type 5 (NSUN2) D S CK syndrome (NSDHL) D S Mental retardation, autosomal recessive type 14 (TECR) D S Coffin-Lowry syndrome (RPS6KA3) D S Mental retardation, autosomal recessive type 15 (MAN1B1) H D S Coffin-Siris syndrome (SMARCE1) D S Mental retardation, autosomal recessive type 39 (TTI2) D S Cold-induced sweating syndrome type 2 (CLCF1) D S Mental retardation, autosomal recessive type 46 (NDST1) D S Cold-induced sweating syndrome (CRLF1) D S Mental retardation, autosomal dominant type 1 (MBD5) D S Costello syndrome (HRAS) D S Mental retardation, autosomal dominant type 2 (DOCK8) D S Craniofrontonasal syndrome (EFNB1) D S Mental retardation, autosomal dominant type 5 (SYNGAP1) D S Creatine deficiency syndrome X-linked (SLC6A8) D S Mental retardation, autosomal dominant type 6 (GRIN2B) D S Danon disease (LAMP2) H D S Mental retardation, autosomal dominant type 9 (KIF1A) D S Dent disease type 2 (OCRL) D S Mental retardation, autosomal dominant type 12 (ARID1B) D S DiGeorge syndrome (TBX1) D S Mental retardation, autosomal dominant type 13 (TRAPPC9) D S Dyslexia (PCDH11X) D S Mental retardation, autosomal dominant type 14 (ARID1A) D S Dysmorphism, HMG20B-related (HMG20B) D S Mental retardation, autosomal dominant type 15 (SMARCB1) D S Ellis-van Creveld syndrome (EVC) D S Mental retardation, autosomal dominant type 16 (SMARCA4) D S Ellis-van Creveld syndrome (EVC2) D S Mental retardation, autosomal dominant type 18 (MED23) D S Episodic pain syndrome type 2, familial (SCN10A) D S Mental retardation, autosomal dominant type 20 (MEF2C) D S Episodic pain syndrome type 2, familial (SCN11A) D S Mental retardation, X-linked (RAB40AL) D S FG syndrome type 1 (MED12) Page 25/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 5. NEUROMUSCULAR & DEVELOPMENTAL DELAY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Other (continued)

D S Mental retardation, X-linked type 3 (HCFC1) D S Microcephaly, autosomal recessive type 7 (STIL) H D S Mental retardation, X-Linked type 13 (MECP2) D S Microcephaly, autosomal recessive type 8 (CEP135) D S Mental retardation, X-linked type 14 (UPF3B) D S Microcephaly, autosomal recessive type 9 (CEP152) D S Mental retardation, X-linked type 15 (CUL4B) D S Microcephaly-capillary malformation syndrome (STAMBP) D S Mental retardation, X-linked type 16 (FGD1) D S Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN) D S Mental retardation, X-linked type 17 (HSD17B10) D S Narcolepsy (HCRT) D S Mental retardation, X-linked type 19 (RPS6KA3) D S Neurodevelopmental disorder, ADAM22-related (ADAM22) D S Mental retardation, X-linked type 21 (IL1RAPL1) D S Neurodevelopmental disorder, APC2-related (APC2) D S Mental retardation, X-linked type 29 (ARX) D S Neurodevelopmental disorder, CNTNAP4-related (CNTNAP4) D S Mental retardation, X-linked type 30 (PAK3) D S Neurodevelopmental disorder, MACF1-related (MACF1) D S Mental retardation, X-linked type 32 (CLIC2) D S Neurodevelopmental disorder, NGEF-related (NGEF) D S Mental retardation, X-linked type 41 (GDI1) D S Neurodevelopmental disorder, TUBB-related (TUBB) D S Mental retardation, X-linked type 44 (FTSJ1) D S Neurodevelopmental disorder, ZNF311-related (ZNF311) D S Mental retardation, X-linked type 46 (ARHGEF6) D S Neurodevelopmental malformation and microcephaly (DYNC1H1) D S Mental retardation, X-linked type 58 (TSPAN7) D S Neurodevelopmental malformation and microcephaly (TUBG1) D S Mental retardation, X-linked type 59 (AP1S2) D S Neurodevelopmental malformation and microcephaly (KIF2A) D S Mental retardation, X-linked type 63 (ACSL4) D S Neurodevelopmental malformation and microcephaly (KIF5C) D S Mental retardation, X-linked type 72 (RAB39B) D S Nicolaides Baraitser syndrome (SMARCA2) D S Mental retardation, X-linked type 88 (AGTR2) D S Norrie disease (NDP) D S Mental retardation, X-linked type 89 (ZNF41) D S Occipital horn syndrome (ATP7A) D S Mental retardation, X-linked type 90 (DLG3) D S Opitz G syndrome (MID1) D S Mental retardation, X-linked type 91 (ZDHHC15) D S Opitz-Kaveggia syndrome (MED12) D S Mental retardation, X-linked type 92 (ZNF674) D S Oral-facial-digital syndrome type 1 (OFD1) D S Mental retardation, X-linked type 93 (BRWD3) D S Oral-facial-digital syndrome type 4 (TCTN3) D S Mental retardation, X-linked type 94 (GRIA3) D S Oral-facial-digital syndrome type 5 (DDX59) D S Mental retardation, X-linked type 95 (MAGT1) D S Partington syndrome (ARX) D S Mental retardation, X-linked type 96 (SYP) D S Phosphoglycerate kinase 1 deficiency (PGK1) D S Mental retardation, X-linked type 97 (ZNF711) D S Pitt-Hopkins syndrome (TCF4) D S Mental retardation, X-linked type 101 (MID2) D S Pitt-Hopkins syndrome (NRXN1) D S Mental retardation, X-linked, nonsyndromic (KIAA2022) D S Prader-Willi syndrome (NDN) D S Mental retardation, X-linked with epilepsy (ATP6AP2) D S Prader-Willi syndrome (SNRPN) D S Mental retardation, X-linked, associated with fragile site FRAXE (AFF2) D Prader-Willi syndrome (chr. 15q11) Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial D S D S Proud syndrome (ARX) appearance (OPHN1) D S Mental retardation, X-linked, with isolated growth hormone deficiency (SOX3) D S Psychomotor retardation (TANC1) D S Mental retardation, X-linked, Christianson type (SLC9A6) D S Renpenning syndrome (PQBP1) D S Mental retardation X-linked, Claes-Jensen type (KDM5C) H D S Rett syndrome (MECP2) D S Mental retardation, x-linked, EFHC2 related (EFHC2) D S Rett syndrome, congenital variant (FOXG1) H D S Mental retardation X-linked, Lubs type (MECP2) H D S Rett syndrome preserved speech variant (MECP2) D S Mental retardation, X-linked, Nascimento-type (UBE2A) D S RNA processing related disorders (HNRNPU) D S Mental retardation, X-linked, Raymond type (ZDHHC9) D S Rubinstein-Taybi syndrome (CREBBP) D S Mental retardation, X-linked, Siderius type (PHF8) D S Rubinstein-Taybi syndrome (EP300) D S Mental retardation X-linked, SMARCA1 related (SMARCA1) D S Schinzel-Giedion midface retraction syndrome (SETBP1) D S Mental retardation X-linked, Turner type (HUWE1) d s Schizophrenia, CALR related (CALR) D S Mental retardation with language impairment and autistic features (FOXP1) D S Schizophrenia, CELSR2-related (CELSR2) D S Microcephaly Amish type (SLC25A19) D S Schizophrenia, NOTCH4-related (NOTCH4) Microcephaly and chorioretinopathy with or without mental retardation D S D Silver-Russell syndrome (chr. 11p15) (TUBGCP6) D S Microcephaly AP4M1 related (AP4M1) D S Silver-Russell syndrome (IGF2) D S Microcephaly CEP63 related (CEP63) D S Shprintzen-Goldberg syndrome (SKI) D S Microcephaly MRE11A related (MRE11A) D S Simpson-Golabi-Behmel syndrome type 1 (GPC3) D S Microcephaly MSMO1 related (MSMO1) D S Smith-Lemli-Opitz syndrome (DHCR7) D S Microcephaly TUBB2B related (TUBB2B) D S Smith-Magenis syndrome (RAI1) D S Microcephaly with cortical malformations, autosomal recessive type 2 (WDR62) D S Speech-language disorder type 1 (FOXP2) D S Microcephaly with epilepsy and diabetes syndrome (IER3IP1) D S Spina bifida folate sensitive (MTRR) Microcephaly with or without chorioretinopathy, Lymphedema, or Mental D S D S Stocco dos Santos X-linked mental retardation syndrome (SHROOM4) retardation, MCLMR (KIF11) Microcephaly with symplified gyral pattern and insulin-dependant diabetes D S Sturge-Weber syndrome (GNAQ) (GFM2) D S D S Microcephaly, autosomal recessive type 1 (MCPH1) S D Temtamy syndrome (C12orf57) D S Microcephaly, autosomal recessive type 2 (WDR62) S D Tourette syndrome (SLITRK1) D S Microcephaly, autosomal recessive type 3 (CDK5RAP2) S D Williams-Beuren syndrome (FZD9) D S Microcephaly, autosomal recessive type 4 (CASC5) S D Williams-Beuren syndrome (FZD9) D S Microcephaly, autosomal recessive type 5 (ASPM) S D Williams-Beuren syndrome (FZD9) D S Microcephaly, autosomal recessive type 6 (CENPJ) S D Williams-Beuren syndrome (FZD9)

Page 26/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V2 Jan2015

GENETIC TESTING REQUISITION 6. OPHTHALMOLOGY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Please indicate requests for Hot Spot (H), Sequencing (S), and/or Deletion/Duplication (D) analysis

Albinism

NGS Panels:

D S Albinism panel (GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1) S (HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3) Hermansky-Pudlak syndrome panel Single genes:

H D S Aland Island eye disease (CACNA1F) D S Hermansky-Pudlak syndrome type 1 (HPS1)

H D S Albinism, ocular type I, Nettleship-Falls type (GPR143) D S Hermansky-Pudlak syndrome type 2 (AP3B1)

D S Albinism, oculocutaneous nonsyndromic (SLC24A5) D S Hermansky-Pudlak syndrome type 3 (HPS3)

H D S Albinism, oculocutaneous type 1B (TYR) D S Hermansky Pudlak syndrome type 4 (HPS4)

H D S Albinism, oculocutaneous type 1A (TYR) D S Hermansky-Pudlak syndrome type 5 (HPS5)

H D S Albinism, oculocutaneous type 2 (OCA2) D S Hermansky-Pudlak syndrome type 6 (HPS6)

D S Albinism, oculocutaneous type 3 (TYRP1) D S Hermansky-Pudlak syndrome type 7 (DTNBP1)

H D S Albinism, oculocutaneous type 4 (SLC45A2) D S Hermansky-Pudlak syndrome type 8 (BLOC1S3)

D S Albinism, oculocutaneous type 5 (C10ORF11) D S Melanoma, cutaneous malignant (MC1R)

D S Chediak-Higashi syndrome (LYST) H D S Melanoma, cutaneous malignant (MITF)

D S Griscelli syndrome type 1 (MYO5A) H D S Tietz albinism-deafness syndrome (MITF)

D S Griscelli syndrome type 3 (MLPH) H D S Waardenburg syndrome/albinism (TYR)

H D S Waardenburg syndrome/albinism (MITF)

Cataracts, Glaucoma & Oculomotor

NGS Panels:

S Cataract panel (AGK,CRYAA,CRYAB,CRYBB1,CRYBB3,CTDP1,FYCO1,GCNT2,GJA8,HSF4,LIM2,SIL1,TDRD7) D S Oculomotor apraxia panel (APTX, PIK3R5, SETX) D S Ophthalmoplegia (progressive external) panel (C10ORF2, DNA2, OPA1, POLG1, POLG2, RRM2B, SLC25A4, TYMP) Single genes:

D S Ataxia-oculomotor apraxia type 1 (APTX) D S Duane Retraction syndrome (CHN1)

D S Ataxia-oculomotor apraxia type 2 (SETX) D S Duane Retraction syndrome (SALL4)

D S Ataxia-oculomotor apraxia type 3 (PIK3R5) D S Fibrosis of extraocular muscles, congenital type 1 (KIF21A)

D S Cataract, autosomal dominant (GCNT2) D S Fibrosis of extraocular muscles, congenital type 2 (PHOX2A)

D S Cataract, autosomal recessive congenital nuclear type 2 (CRYBB3) D S Fibrosis of extraocular muscles, congenital type 3A (TUBB3)

D S Cataract, autosomal recessive congenital nuclear type 3 (CRYBB1) D S Glaucoma, open angle type 1A (MYOC)

D S Cataract, autosomal recessive congenital type 1 (CRYAA) D S Glaucoma, open angle type 1E (OPTN)

D S Cataract, autosomal recessive congenital type 2 (FYCO1) D S Glaucoma, open angle type 1G (WDR36)

D S Cataract, autosomal recessive congenital type 4 (TDRD7) D S Glaucoma, primary type 3A (CYP1B1)

D S Cataract, autosomal recessive type 38 (AGK) D S Glaucoma, primary type 3D (LTBP2)

D S Cataract, X linked (NHS) D S Hyperferritinemia-cataract syndrome (FTL)

D S Cataract, type 23 (CRYBA4) D S Iridogoniodysgenesis, type 1 (FOXC1)

D S Cataract, congenital, associated with Marinesco-Sjogren Syndrome (SIL1) D S Nystagmus type 1 (FRMD7)

D S Cataract, cortical pulverulent, late-onset (LIM2) H D S Nystagmus type 6 (GPR143)

D S Cataract, lamellar (HSF4) H D S Progressive external ophthalmoplegia with mitochondrial deletions type 1 (POLG)

Progressive external ophthalmoplegia with mitochondrial deletions type 3 D S Cataract, posterior polar type 2 (CRYAB) D S (C10ORF2) Progressive external ophthalmoplegia with mitochondrial deletions type 4 D S Cataract-microcornea syndrome (GJA8) D S (POLG2) Progressive external ophthalmoplegia with mitochondrial deletions, autosomal D S Cataracts with facial dysmorphism and neuropathy (CTDP1) H D S recessive (POLG) D S Cataracts, pulverulent or cerulean, with or without microcornea (MAF)

Retinitis Pigmentosa

NGS Panels: Retinitis pigmentosa (ABCA4, BEST1, CA4, CRX, CLRN1, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, D S RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, TOPORS) autosomal dominant panel Retinitis pigmentosa (ABCA4, ARL6, BBS1, BEST1, C2ORF71, C8ORF38, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, GNPTG, IDH3B, IMPG2, LRAT, D S MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, RBP3, RDH12, RGR, RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, SEMA4A, SPATA7, autosomal recessive panel TTC8, TULP1, USH2A, ZNF513)

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GENETIC TESTING REQUISITION 6. OPHTHALMOLOGY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Retinitis Pigmentosa (continued)

Single genes:

D S Retinitis pigmentosa type 12, autosomal recessive (CRB1) D S Retinitis pigmentosa type 66, autosomal recessive (RBP3) D S Retinitis pigmentosa type 14, autosomal recessive (TULP1) D S Retinitis pigmentosa, juvenile, autosomal recessive (SPATA7) D S Retinitis pigmentosa type 19, autosomal recessive (ABCA4) H D S Retinitis pigmentosa type 1, autosomal dominant (RP1) D S Retinitis pigmentosa type 20, autosomal recessive (RPE65) H D S Retinitis pigmentosa type 4, autosomal dominant/recessive (RHO) D S Retinitis pigmentosa type 25, autosomal recessive (EYS) D S Retinitis pigmentosa type 7, autosomal dominant (ROM1) D S Retinitis pigmentosa type 26, autosomal recessive (CERKL) H D S Retinitis pigmentosa type 7, autosomal dominant (PRPH2) D S Retinitis pigmentosa type 28, autosomal recessive (FAM161A) D S Retinitis pigmentosa type 9, autosomal dominant (RP9) D S Retinitis pigmentosa type 36, autosomal recessive (PRCD) D S Retinitis pigmentosa type 10, autosomal dominant (IMPDH1) D S Retinitis pigmentosa type 38, autosomal recessive (MERTK) D S Retinitis pigmentosa type 11, autosomal dominant (PRPF31) D S Retinitis pigmentosa type 39, autosomal recessive (USH2A) D S Retinitis pigmentosa type 13, autosomal dominant (PRPF8) D S Retinitis pigmentosa type 40, autosomal recessive (PDE6B) D S Retinitis pigmentosa type 17, autosomal dominant (CA4) D S Retinitis pigmentosa type 41, autosomal recessive (PROM1) D S Retinitis pigmentosa type 18, autosomal dominant (PRPF3) D S Retinitis pigmentosa type 43, autosomal recessive (PDE6A) D S Retinitis pigmentosa type 19, autosomal dominant (ABCA4) D S Retinitis pigmentosa type 45, autosomal recessive (CNGB1) D S Retinitis pigmentosa type 27, autosomal dominant (NRL) D S Retinitis pigmentosa type 46, autosomal recessive (IDH3B) D S Retinitis pigmentosa type 30, autosomal dominant (FSCN2) D S Retinitis pigmentosa type 47, autosomal recessive (SAG) D S Retinitis pigmentosa type 31, autosomal dominant (TOPORS) D S Retinitis pigmentosa type 49, autosomal recessive (CNGA1) D S Retinitis pigmentosa type 33, autosomal dominant (SNRNP200) D S Retinitis pigmentosa type 51, autosomal recessive (TTC8) H D S Retinitis pigmentosa type 35, autosomal dominant/recessive (SEMA4A) D S Retinitis pigmentosa type 53, autosomal recessive (RDH12) H D S Retinitis pigmentosa type 37, autosomal dominant/recessive (NR2E3) D S Retinitis pigmentosa type 54, autosomal recessive (C2ORF71) D S Retinitis pigmentosa type 42, autosomal dominant (KLHL7) H D S Retinitis pigmentosa type 55, autosomal recessive (ARL6) D S Retinitis pigmentosa type 44, autosomal dominant/recessive (RGR) D S Retinitis pigmentosa type 56, autosomal recessive (IMPG2) D S Retinitis pigmentosa type 48, autosomal dominant (GUCA1B) D S Retinitis pigmentosa type 57, autosomal recessive (PDE6G) D S Retinitis pigmentosa type 50, autosomal dominant (BEST1) D S Retinitis pigmentosa type 58, autosomal recessive (ZNF513) D S Retinitis pigmentosa type 60, autosomal dominant (PRPF6) D S Retinitis pigmentosa type 59, autosomal recessive (DHDDS) D S Retinitis pigmentosa juvenile (LRAT) D S Retinitis pigmentosa type 61, autosomal recessive (CLRN1) H D S Retinitis pigmentosa type 2 X-linked (RP2) D S Retinitis pigmentosa type 62, autosomal recessive (MAK) H D S Retinitis pigmentosa type 3 X-linked (RPGR) D S Retinitis pigmentosa type 64, autosomal recessive (C8ORF37) D S Retinitis pigmentosa type 23 X-linked (OFD1)

Retinopathies

NGS Panels:

Cone-rod and cone dystrophy panel (ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, D S GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, UNC119)

D S Flecked retina panel (CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, VPS13B) (AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13 , LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, D S Leber congenital amaurosis panel SPATA7, TULP1) D S Stargardt disease panel (ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, PRPH2, RDH12, RP1L1, RPGR, TIMP3) Single genes:

D S Achromatopsia type 2 (CNGA3) D S Cone-rod dystrophy type 11 (RAX2)

D S Achromatopsia type 3 (CNGB3) D S Cone-rod dystrophy type 12 (PROM1)

D S Achromatopsia type 4 (GNAT2) D S Cone-rod dystrophy type 13 (RPGRIP1)

D S Achromatopsia type 6 (PDE6H) D S Cone-rod dystrophy type 14 (GUCA1A)

D S Bestrophinopathy (BEST1) D S Cone-rod dystrophy type 15 (CDHR1)

D S Bothnia retinal dystrophy (RLBP1) D S Choroideremia (CHM)

D S Bradyopsia (RGS9) D S Doyne honeycob retinal dystrophy (EFEMP1)

D S Bradyopsia (RGS9BP) D S Exudative vitreoretinopathy (FZD4)

D S Cone-rod dystrophy (UNC119) D S Exudative vitreoretinopathy type 2 (NDP)

D S Cone-rod dystrophy (AIPL1) D S Exudative vitreoretinopathy type 5 (TSPAN12)

D S Cone-rod dystrophy type 2 (CRX) D S Fleck retina, familial benign (PLA2G5)

D S Cone-rod dystrophy type 3 (ABCA4) D S Fundus albipunctatus (RDH5)

H D S Cone-rod dystrophy, X-linked type 3 (CACNA1F) H D S Fundus albipunctatus (PRPH2) D S Cone-rod dystrophy type 4 (PDE6C) D S Fundus flavimaculatus (ABCA4)

D S Cone-rod dystrophy type 5 (PITPNM3) H D S Fundus flavimaculatus (PRPH2)

D S Cone-rod dystrophy type 7 (RIMS1) D S Leber congenital amaurosis type 1 (GUCY2D)

D S Cone-rod dystrophy type 9 (ADAM9) D S Leber congenital amaurosis type 3 (SPATA7)

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GENETIC TESTING REQUISITION 6. OPHTHALMOLOGY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Retinopathies (continued)

Single genes:

D S Leber congenital amaurosis type 5 (LCA5) D S Night blindness, congenital stationary type 2B (CABP4)

D S Leber congenital amaurosis type 6 (RPGRIP1) D S Night blindness, congenital stationary type 3 (GNAT1)

D S Leber congenital amaurosis type 7 (CRX) D S Night blindness, congenital stationary, type 1E (GPR179)

D S Leber congenital amaurosis type 9 (NMNAT1) H D S Occult macular dystrophy (RP1L1)

D S Leber congenital amaurosis type 11 (IMPDH1) D S Oguchi disease (SAG)

D S Leber congenital amaurosis type 12 (RD3) D S Oguchi disease (GRK1)

D S Leber congenital amaurosis type 16 (KCNJ13) H D S Patterned dystrophy of retinal pigment epithelium (PRPH2)

D S Leber congenital amaurosis type 17 (GDF6) D S Retinal cone dystrophy type 3B (KCNV2)

D S Leber congenital amaurosis with myopathy (DTHD1) D S Retinal cone dystrophy type 4 (CACNA2D4)

D S Macular degeneration, age-related type 6 (RAX2) D S Retinal degeneration, late-onset, autosomal dominant (C1QTNF5)

D S Macular degeneration, age-related type 11 (CST3) D S Retinal dystrophy, early-onset severe (ABCA4)

D S Macular dystrophy retinal type 2 (PROM1) D S Retinal nonattachment nonsyndromic congenital (ATOH7)

D S Macular dystrophy, vitelliform (BEST1) D S Retinoschisis (RS1)

H D S Macular dystrophy, vitelliform (PRPH2) D S Sorsby fundus dystrophy (TIMP3) D S Night blindness, congenital stationary type 1A (NYX) D S Stargardt Disease type 1 (ABCA4)

D S Night blindness, congenital stationar type 1B (GRM6) D S Stargardt Disease type 1 (CNGB3)

D S Night blindness, congenital stationary type 1C (TRPM1) D S Stargardt Disease type 3 (ELOVL4) D S Night blindness, congenital stationary type 2A (CACNA1F) D S Stargardt Disease type 4 (PROM1)

Other

NGS Panels: (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, EXOC8, INPP5E, KIF7, MSK1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, D S Joubert syndrome panel TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423)

D S Leber optic atrophy panel (MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND4, MT-ND4L, MT-ND5, MT-ND6) D S Microphthalmia panel (ALDH1A3, BCOR, BMP4, HCCS, MITF, OTX2, RAX, SIX6, SOX2, STRA6, TENM1, TENM3, VSX2) D S Optic atrophy panel (AUH, C12ORF65, CISD2, NDUFS1, OPA1, OPA3, POLG, SPG7, TIMM8A, TMEM126A, WFS1) D S Stickler syndrome panel (COL2A1, COL9A1, COL9A2, COL11A1, COL11A2)

D S Usher syndrome panel (CDH23, CIB2, CLRN1, DFNB31, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A) Single genes: D S Axenfeld-Rieger syndrome type 3 (FOXC1) D S Joubert syndrome type 16 (TMEM138) D S Axenfeld-Rieger syndrome type 3 (PITX2) D S Joubert syndrome type 17 (C5orf42)

D S Axenfeld-Rieger syndrome type 3 (PAX6) D S Joubert syndrome type 18 (TCTN3)

D S Axenfeld-Rieger syndrome type 3 (CYP1B1) D S Joubert syndrome type 20 (TMEM231)

D S Alstrom syndrome (ALMS1) D S Joubert syndrome type 21 (CSPP1)

D S Blepharophimosis, epicanthus inversus, and ptosis (FOXL2) D S Joubert syndrome, EXOC8 related (EXOC8)

D S Blepharophimosis-ptosis-intellectual disability syndrome (UBE3B) D S Joubert syndrome, EXOSC8 related (EXOSC8)

D S Brittle cornea syndrome (ZNF469) D S Knobloch syndrome type 1 (COL18A1)

H D S Choroidal dystrophy, central areolar type 2 (PRPH2) D S Leber congenital neuropathy (MT-CYB) D S Coat plus syndrome (CTC1) D S Leber optic atrophy (MT-CO1)

D S Colobomatous microphthalmia (TENM1) D S Leber optic atrophy (MT-CO3)

D S Corneal dystrophy, epithelial basement membrane (TGFB1) D S Leber optic atrophy (MT-ND1)

D S Corneal endothelial dystrophy 2 (SLC4A11) D S Leber optic atrophy (MT-ND2)

D S Corneal intraepithelial dyskeratosis and ectodermal dysplasia (NLRP1) D S Leber optic atrophy (MT-ND4)

D S Ectodermal dysplasia, ectrodactyly, and macular dystrophy (CDH3) D S Leber optic atrophy (MT-ND4L)

D S Ectopia lentis et pupillae (ADAMTSL4) D S Leber optic atrophy (MT-ND5)

D S Ectopia lentis, isolated, autosomal recessive (ADAMTSL4) D S Leber optic atrophy (MT-ND6)

D S Gaze palsy, horizontal, with progressive scoliosis (ROBO3) D S Leber optic atrophy (MT-ATP6)

D S Gyrate atrophy of choroid and retina with or without ornithinemia (OAT) D S Mainzer Saldino syndrome (IFT140) D S Jalili syndrome (CNNM4) D S Megalocornea, X-linked (CHRDL1)

D S Joubert syndrome type 1 (INPP5E) D S Microphthalmia, isolated type 2 (VSX2) D S Joubert syndrome type 2 (TMEM216) D S Microphthalmia, isolated type 3 (RAX) D S Joubert syndrome type 3 (AHI1) D S Microphthalmia, isolated type 4 (GDF6) D S Joubert syndrome type 4 (NPHP1) D S Microphthalmia, isolated type 9 (GDF3) D S Joubert syndrome type 5 (CEP290) D S Microphthalmia, isolated with coloboma type 3 (VSX2) D S Joubert syndrome type 6 (TMEM67) D S Microphthalmia, isolated with coloboma type 6 (GDF3) D S Joubert syndrome type 7 (RPGRIP1L) D S Microphthalmia syndromic type 2 (BCOR) D S Joubert syndrome type 9 (CC2D2A) D S Microphthalmia syndromic type 3 (SOX2) D S Joubert syndrome type 10 (OFD1) D S Microphthalmia syndromic type 4 (OTX2) D S Joubert syndrome type 13 (TCTN1) D S Microphthalmia syndromic type 6 (BMP4) D S Joubert syndrome type 14 (TMEM238) D S Microphthalmia syndromic type 6 (SIX6) D S Joubert syndrome type 15 (CEP41) D S Microphthalmia syndromic type 7 (HCCS)

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Other (continued)

D S Microphthalmia syndromic type 8 (ALDH1A3) D S Stickler syndrome type 3 (COL11A2) D S Microphthalmia syndromic type 9 (STRA6) H D S Stickler syndrome, autosomal recessive (COL9A1) D S Microspherophakia and/or megalocornea (LTBP2) D S Stickler syndrome, type 5 (COL9A2) D S Nonarteritic anterior ischemic optic neuropathy (GP1BA) D S Usher syndrome type 1D/F (PCDH15) D S Oculodentodigital dysplasia (GJA1) D S Usher syndrome type 1D/F (CDH23) D S Optic atrophy (TMEM126A) D S Usher syndrome type 1G (USH1G) D S Optic atrophy type1 (OPA1) H D S Usher syndrome type IJ (CIB2) D S Optic atrophy type 3 (OPA3) D S Usher syndrome type 2C (GPR98) Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and D S Usher syndrome type 2C (PDZD7) D S neuropathy (OPA1) D S Peters Anomaly (CYP1B1) D S Usher syndrome type 3A (CLRN1) D S Peters-Plus syndrome (B3GALTL) D S Phelan-McDermid syndrome (SHANK3) D S Vitreoretinochoroidopathy (BEST1) D S Retinoblastoma (RB1) D S Wagner syndrome (VCAN) D S Revesz syndrome (TINF2) D S Warburg micro syndrome type 1 (RAB3GAP1) D S Rieger syndrome (FOXC1) D S Warburg micro syndrome type 3 (RAB18) D S Rieger syndrome (PITX2) H D S Weill-Marchesani syndrome - AD (FBN1) D S Rieger syndrome (CYP1B1) D S Weill-Marchesani syndrome - AR (ADAMTS10) D S Rieger syndrome (PAX6) D S Weill-Marchesani syndrome type 3 (LTBP2) D S Senior-Loken syndrome type 5 (IQCB1) D S Wolfram syndrome type 1 (WFS1) H D S Stickler syndrome type 1 (COL2A1) D S Wolfram syndrome type 2 (CISD2) H D S Stickler syndrome type 2 (COL11A1)

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GENETIC TESTING REQUISITION 7. REPRODUCTIVE HEALTH & INFERTILITY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Please indicate requests for Hot Spot (H), Exon (E), Sequencing (S), Repeat Expansion (R) and/or Deletion/Duplication (D) analysis

Infertility : Tests for Males & Females

Microarray: S Genomic microarray NGS Panels:

D S Infertility panel (LHB, FSHB, LHCGR, FSHR) D S Kallmann syndrome panel (CHD7, FGFR1, FGF8, GNRHR, GNRH1, KAL1, KISS1R, PROK2, PROKR2, SEMA3A, TAC3, Colorectal canceTACR3) Single genes: D S Androgen insensitivity (AR) D S Hypogonadotropic hypogonadism 11 with or without anosmia (TACR3) D S Aromatase deficiency (CYP19A1) D S Hypogonadotropic hypogonadism 12 with or without anosmia (GNRH1) D S Disorders of sex development with cleft palate (FOXF2) D S Hypogonadotropic hypogonadism type 14 (WDR11) D S Follicle-stimulating hormone deficiency, isolated (FSHB) D S Kallmann syndrome type 1 (KAL1) D S Hydatidiform mole (NLRP7) D S Kallmann syndrome type 2 (FGFR1) D S Hydatidiform mole (KHDC3L) D S Kallmann syndrome type 3 (PROKR2) D S Hypogonadotropic hypogonadism (KISS1) D S Kallmann syndrome type 4 (PROK2) D S Hypogonadotropic hypogonadism (KISS1R) D S Kallmann syndrome type 5 (CHD7) D S Hypogonadotropic hypogonadism (LHB) D S Kallmann syndrome type 6 (FGF8) D S Hypogonadotropic hypogonadism (NSMF) D S Kallmann syndrome, SEMA3A related (SEMA3A) D S Hypogonadotropic hypogonadism 7 with or without anosmia (GNRHR) D S Leydig cell hypoplasia type 1 (LHCGR)

Infertility : Tests for Males*

Single genes: D S 46XX sex reversal 1 (SRY) D S Spermatogenesis dysfunction (SOHLH1) D S Autosomal nonsyndromic male infertility (CATSPER2) D S Oligozoospermia and/or tetratazoospermia(FSHR) D Azoospermia induced by Y chromosome microdeletions (AZF region) D S Oligo-astheno-teratozoospermia (NANOS1) D S Cystic fibrosis/Congenital Bilateral Absence of the Vas Deferens (CFTR) D S Spermatogenic failure type 4 (SYCP3) H D S Deafness and male infertility (STRC) D S Spermatogenic failure type 5 (AURKC) D S Oligo-astheno-teratozoospermia (NANOS1) D S Spermatogenic failure type 6 (SPATA16) D S Persistent mullerian duct syndrome type 1 (AMH) D S Spermatogenic failure type 7 (CATSPER1) D S Persistent mullerian duct syndrome type 2 (AMHR2) D S Spermatogenic failure type 8 (NR5A1) D S Pseudohermaphroditism with gynecomastia (HSD17B3) D S Spermatogenic failure type 9 (DPY19L2)

*Gender is based on phenotype which may not be consistent with a patient’s genotypic gender Infertility: Tests for Females*

Single genes: D S Ovarian dysgenesis 1 (FSHR) R D S Premature ovarian failure/Fragile X Syndrome (FMR1) D S Oogenesis dysfunction (SOHLH1) *Gender is based on phenotype which may not be consistent with a patient’s genotypic gender

Additional Genetic Syndromes with Infertility

NGS Panels:

D S Polycystic kidney panel (BICC1, PKD1, PKD2, NOTCH2, PKHD1) Single genes: D S Adrenal hypoplasia (NR0B1) H D S Noonan syndrome type 6 (NRAS) D S Denys-Drash syndrome (WT1) H D S Noonan syndrome type 7 (BRAF) Noonan syndrome-like disorder with or without juvenile meylomonocytic D S Frasier syndrome (WT1) D S leukemia (CBL) D S Myotonic dystrophy type 1 (DMPK) D S Polycystic kidney disease type 1, autosomal recessive (PKHD1)

E R Myotonic dystrophy type 2 (CNBP) H D S Polycystic kidney disease type 1, autosomal dominant (PKD1)

E R Noonan syndrome like (SHOC2) D S Polycystic kidney disease type 2, autosomal dominant (PKD2)

D S Noonan syndrome type 1 (PTPN11) D S Usher syndrome type 1D/F (PCDH15)

D S Noonan syndrome type 3 (KRAS) D S Usher syndrome type 1D/F (CDH23)

D S Noonan syndrome type 4 (SOS1) D S Usher syndrome type 3A (CLRN1)

D S Noonan syndrome type 5 (RAF1) H D S Usher syndrome type IJ (CIB2)

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GENETIC TESTING REQUISITION 7. REPRODUCTIVE HEALTH & INFERTILITY 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Population Screening Tests

NGS Panels:

Advanced Ashkenazi (Sanger) panel GBA (8 mut), CFTR (26 mut), HEXA (7mut), IKBKAP (2 mut), ASPA (4 mut), G6PC (2 mut) ABCC8 (2 mut), MCOLN1 (2 mut), BCKDHB *includes BRCA1/BRCA2 analysis. To opt out, (3mut), FANCC (2 mut), DLD (2 mut), SMPD1 (4 mut), CLRN1 (1 mut), PCDH15 (1mut), BLM (1mut), NEB (1 mut), BRCA1 (2 mut), S please indicated in the “Test Instructions” BRCA2 (1 mut) S Basic Ashkenazi (Sanger) panel (HEXA (7 mutations), IKBKAP (2 mut), ASPA (4 mut),MCOLN1 (2 mut), FANCC (2 mut), SMPD1 (4 mut), BLM (1 mut)) Single genes: D S Cystic fibrosis (CFTR) D S Thalassemia, alpha (HBA1)

D S Hemochromatosis classical (HFE) D S Thalassemia, alpha (HBA2)

D S Sickle cell anemia (HBB) D S Thalassemia, delta-beta (HBB)

D S Spinal muscular atrophy (SMA) (SMN1)

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GENETIC TESTING REQUISITION 9. TUMORAL & HEMATOLOGICAL DISORDERS 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Please indicate requests for Hot Spot (H), Sequencing (S), and/or Deletion/Duplication (D) analysis

Disorders of Skin, Teeth, & Hair NGS Panels:

S Congenital ichthyosis panel (ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, TGM1) S Epidermolysis bullosa panel (COL17A1, LAMA3, LAMB3, LAMC2) Single genes: H D S Acne inversa familial type 3 (PSEN1) D S Epidermolytic palmoplantar keratoderma (KRT9) Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and D S Adams-Oliver syndrome type 1 (ARHGAP31) D S hyper IgE (DSG1) D S Adams-Oliver syndrome type 2 (DOCK6) D S Erythrokeratodermia variabilis et progressiva (GJB3) D S Adams-Oliver syndrome type 3 (RBPJ) D S Erythrokeratodermia variabilis et progressiva (GJB4) D S Ankyloblepharon-ectodermal defects-cleft lip/palate (TP63) D S Focal dermal hypoplasia (PORCN) D S Albinism oculocutaneous nonsyndromic (SLC24A5) D S Griscelli syndrome type 1 (MYO5A) H D S Albinism, oculocutaneous type 1A (TYR) D S Griscelli syndrome type 3 (MLPH) H D S Albinism, oculocutaneous type 1B (TYR) D S Haim-Munk syndrome (CTSC) H D S Albinism, oculocutaneous type 2 (OCA2) D S Hyaline fibromatosis syndrome (ANTXR2) H D S Albinism, oculocutaneous type 2 (OCA2) D S Hypotrichosis Type 7 (LIPH) D S Albinism, oculocutaneous type 3 (TYRP1) D S Ichthyosiform erythroderma, congenital, nonbullous type 1 (ALOX12B) H D S Albinism, oculocutaneous type 4 (SLC45A2) D S Ichthyosiform erythroderma, congenital, nonbullous type 1 (ALOXE3) D S Albinism oculocutaneous type 5 (C10ORF11) D S Ichthyosiform erythroderma, congenital, nonbullous type 1 (NIPAL4) H D S Amelogenesis imperfecta (DLX3) D S Ichthyosiform erythroderma, congenital, nonbullous type 1 (TGM1) D S Autosomal dominant woolly hair with hypotrichosis (KRT71) D S Ichthyosis congenita, Harlequin fetus type (ABCA12) D S Autosomal dominant woolly hair with hypotrichosis (KRT74) D S Ichthyosis congenital, autosomal recessive type 9 (CERS3) D S Bjornstad syndrome (BCS1L) D S Ichthyosis congenital, autosomal recessive PNPLA1 related (PNPLA1) Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome D S (SNAP29) D S Ichthyosis follicularis, atricia, and photophobia syndrome (MBTPS2) D S Chediak-Higashi syndrome (LYST) D S Ichthyosis prematurity syndrome (SLC27A4) D S CHIME syndrome (PIGL) H D S Ichthyosis vulgaris (FLG) D S Corneal intraepithelial dyskeratosis and ectodermal dysplasia (NLRP1) D S Ichthyosis, bullous type (KRT2) D S Craniosynostosis and dental anomalies (IL11RA) D S Ichthyosis, lamellar type 1 (TGM1) D S Cutis laxa type 1B (EFEMP2) D S Ichthyosis, lamellar type 2 (ABCA12) D S Cutis laxa type 2B (PYCR1) D S Ichthyosis, lamellar type 3 (CYP4F22) D S Cutis laxa type 3B (PYCR1) D S Ichthyosis, lamellar type 4 (LIPN) D S Cutis laxa, autosomal dominant (ELN) D S Ichthyosis, spastic quadriplegia, and mental retardation (ELOVL4) H D S Dermatitis, atopic type 2 (FLG) D S Ichthyosis, X-linked (STS) D S Dyskeratosis congenita, autosomal dominant type 1 (TERC) D S Incontinentia pigmenti type 2 (IKBKG) D S Dyskeratosis congenita, autosomal dominant type 1 (TERT) D S Keratosis follicularis spinulosa declavans, X-linked (MBTPS2) D S Dyskeratosis congenita, autosomal recessive type 1 (NOP10) D S Keratosis palmoplantaris striata type 1 (DSG1) D S Dyskeratosis congenita, autosomal recessive type 2 (NHP2) D S Keratosis palmoplantaris striata type 2 (DSP) D S Dyskeratosis congenita, autosomal recessive type 5 (RTEL1) D S Kindler syndrome (FERMT1) D S Dyskeratosis congenita, X-linked (DKC1) D S Kindler syndrome (FBLIM1) D S Ectodermal dysplasia, ectrodactyly, and macular dystrophy (CDH3) D S Laryngoonychocutaneous syndrome (LAMA3) H D S Ectodermal dysplasia, hidrotic (GJB6) D S Legius syndrome (SPRED1) D S Ectodermal dysplasia, hypohidrotic, autosomal recessive (EDAR) D S Mal de Meleda (SLURP1) D S Ectodermal dysplasia, hypohidrotic, autosomal recessive (EDARADD) D S Netherton syndrome (SPINK5) D S Ectodermal dysplasia, hypohidrotic, with immune deficiency (IKBKG) D S Oculodentodigital dysplasia (GJA1) D S Ectodermal dysplasia, hypohidrotic, X-linked (EDA) D S Odontoonychodermal dysplasia (WNT10A) H D S Epidermal nevus, somatic (NRAS) D S Olmsted syndrome (TRPV3) D S Epidermolysis bullosa dystrophica (COL7A1) D S Pachyonychia congenita type 1 (KRT6A) D S Epidermolysis bullosa, junctional (COL17A1) D S Papillon-Lefevre syndrome (CTSC) D S Epidermolysis bullosa, junctional (LAMB3) D S Peeling skin syndrome (CDSN) D S Epidermolysis bullosa, junctional (LAMC2) D S Peeling skin syndrome type A (CHST8) D S Epidermolysis bullosa, junctional LAMA3 (LAMA3) D S Peeling skin syndrome, acral type (TGM5) D S Epidermolysis bullosa junctionalis with pyloric atresia (ITGA6) D S Porokeratosis type 3, disseminated superficial actinic (MVK) D S Epidermolysis bullosa junctionalis with pyloric atresia (ITGB4) D S Porphyria cutanea tarda (UROD) D S Epidermolysis bullosa, lethal acantholytic (DSP) D S Psoriasis susceptibility type 11 (IL12B) D S Epidermolysis bullosa simplex (KRT5) D S Psoriasis, generalized pustular (IL36RN) D S Epidermolysis bullosa simplex (KRT14) D S Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PSTPIP1) D S Epidermolysis bullosa simplex, autosomal recessive (DST) D S Rapp-Hodgkin syndrome (TP63) D S Epidermolytic hyperkeratosis (KRT1) D S Restrictive dermopathy, lethal (ZMPSTE24) D S Epidermolytic hyperkeratosis (KRT10) D S Rothmund-Thomson syndrome (RECQL4)

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GENETIC TESTING REQUISITION 9. TUMORAL & HEMATOLOGICAL DISORDERS 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Disorders of Skin, Teeth, & Hair (continued)

D S Skin fragility-woolly hair syndrome (DSP) D S Tylosis with esophageal cancer (RHBDF2) D S Skin hair eye pigmentation 6 (SLC24A4) D S UV-sensitive syndrome 3 (UVSSA) D S Telangiectasia hereditary hemorrhagic type 5 (GDF2) D S Vohwinkel syndrome with ichthyosis (LOR) D S Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber Type 1 (ENG) D S Waardenburg syndrome type 1 (PAX3) Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber Type 2 D S (ACVRL1) D S Waardenburg syndrome type 2E (SOX10) D S Tooth agenesis, selective type 1 (MSX1) D S Waardenburg syndrome type 4C (SOX10) D S Tooth agenesis, selective type 3 (PAX9) D S Witkop syndrome (MSX1) H D S Trichodontoosseous syndrome (DLX3) D S Xeroderma pigmentosum, group A (XPA) D S Trichothiodystrophy (ERCC2) D S Xeroderma pigmentosum, group C (XPC) D S Trichothiodystrophy (ERCC3) D S Xeroderma pigmentosum, group D (ERCC2) D S Trichothiodystrophy (GTF2H5) D S Xeroderma pigmentosum, group G (ERCC5) D S Trichothiodystrophy, nonphotosensitive type 1 (MPLKIP) D S Xeroderma pigmentosum, variant type (POLH)

Disorders of Bone & Connective Tissue

NGS Panels:

D S Ehlers-Danlos syndrome panel (COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, TNXB) D S Marfan syndrome and related disorders panel (ACTA2,COL3A1,COL5A1,COL5A2,FBN1,FBN2,MYH11,SLC2A10,SMAD3,TGFBR1,TGFBR2) S Metaphyseal dysplasia panel (ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2) D S Multiple epiphyseal dysplasia panel (COL2A1,COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC6A2) D S Osteogenesis imperfecta panel (COL1A1, COL1A2, IFITM5) D S Osteogenesis imperfecta, autosomal recessive panel (BMP1, CRTAP, FKBP10, LEPRE1, PLOD2, PPIB, SERPINH1, SP7) S Osteopetrosis panel (CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFSF11, TNFRSF11A) D S Seckel syndrome panel (ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP) Single genes:

D S 3 M syndrome type 1 (CUL7) D S Cleidocranial dysplasia (RUNX2) D S 3 M syndrome type 2 (OBSL1) H D S Craniofacial-skeletal-dermatologic dysplasia (FGFR2) D S Achondrogenesis, type IA (TRIP11) D S Craniofacial and neuro-developmental abnormalities (DISP1) D S Achondrogenesis, type IB (SLC26A2) D S Craniometaphyseal dysplasia (ANKH) D S Achondroplasia (FGFR3) D S Craniosynostosis type 2 (MSX2) D S Acrodermatitis enteropathica (SLC39A4) D S Craniosynostosis type 3 (TCF12) D S Acrodysostosis 2 (PDE4D) D S Craniosynostosis and dental anomalies (IL11RA) D S Acrofacial dysostosis 1, Nager type (SF3B4) D S Crouzon syndrome with acanthosis nigricans (FGFR3) D S Acromesomelic dysplasia, Maroteaux type (NPR2) D S Diaphyseal medullary stenosis with malignant fibrous histiocytoma (MTAP) H D S Antley-Bixler syndrome (FGFR2) D S Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2) D S Alazami syndrome (LARP7) D S Ehlers-Danlos syndrome type 1/2 (COL5A1) H D S Apert syndrome (FGFR2) D S Ehlers-Danlos syndrome type 1/2 (COL5A2) D S Arthropathy of childhood, progressive pseudorheumatoid (WISP3) D S Ehlers-Danlos syndrome type 3 (TNXB) D S Atelosteogenesis type 1 (FLNB) H D S Ehlers-Danlos syndrome type 3 (COL3A1) D S Atelosteogenesis type 3 (FLNB) H D S Ehlers-Danlos syndrome type 4 (COL3A1) D S Baller-Gerold syndrome (RECQL4) D S Ehlers-Danlos syndrome type 4 (COL5A1) H D S Beare-Stevenson cutis gyrata syndrome (FGFR2) D S Ehlers-Danlos syndrome type 6 (PLOD1) H D S Bent bone dysplasia syndrome (FGFR2) H D S Ehlers-Danlos syndrome type 7A (COL1A1) D S Brachydactyly type A2 (BMPR1B) D S Ehlers-Danlos syndrome type 7B (COL1A2) D S Brachydactyly type A2 (BMP2) D S Ehlers-Danlos syndrome type 7C (ADAMTS2) Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and D S Brachydactyly type B1 (ROR2) D S hearing loss (FKBP14) D S Brachydactyly type E1 (HOXD13) D S Ehlers-Danlos syndrome, progeroid type 1 (B4GALT7) D S Brachydactyly, type A1 (GDF5) D S Exostoses, multiple, type 1 (EXT1) D S Brachydactyly-mental retardation syndrome (HDAC4) H D S Fibrochondrogenesis 2 (COL11A2) D S Brachydactyly-syndactyly syndrome (HOXD13) D S Fibrodysplasia ossificans progressiva (ACVR1) Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly Buschke-Ollendorff syndrome (LEMD3) D S D S (WNT7A) D S C syndrome (CD96) D S Floating-Harbor syndrome (SRCAP) D S Campomelic dysplasia (SOX9) D S Frank-ter Haar syndrome (SH3PXD2B) D S Camurati-Engelmann disease (TGFB1) D S Frontonasal dysplasia type 1 (ALX3) D S Chondrodysplasia punctata, X-linked recessive (ARSE) D S Geleophysic dysplasia (ADAMTSL2) D S Chondrosarcoma (EXT1)

Page 34/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 9. TUMORAL & HEMATOLOGICAL DISORDERS 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Disorders of Bone & Connective Tissue (continued)

D S Greig cephalopolysyndactyly syndrome (GLI3) D S Otospondylomegaepiphyseal dysplasia (COL11A2) D S Gracile bone dysplasia (FAM111A) D S Parietal foramina type 1 (MSX2) D S Holt-Oram syndrome (TBX5) H D S Pfeiffer syndrome (FGFR2)

D S Holt-Oram syndrome (SALL4) D S Postaxial acrofacial dysostosis (DHODH)

D S Hypertrophic osteoarthropathy type 1 (HPGD)) D S Pseudoachondroplasia (COMP) D S Hypertrophic osteoarthropathy type 2 (SLCO2A1) D S Pycnodysostosis (CTSK)

D S Jackson-Weiss syndrome (FGFR2) D S Radioulnar synostosis, FGFRL1 related (FGFRL1)

D S Klippel-Feil syndrome type 1, autosomal dominant (GDF6) D S RAPADILINO syndrome (RECQL4)

D S Klippel-Feil syndrome type 3, autosomal dominant (GDF3) D S Rhizomelic chondrodysplasia punctata type 2 (GNPAT) D S Langer-Giedion syndrome (EXT1) D S Rhizomelic chondrodysplasia punctata type 3 (AGPS)

D S Langer-Giedion syndrome (TRPS1) D S Roberts syndrome (ESCO2)

D S Larsen syndrome (FLNB) D S Robinow syndrome (ROR2)

D S Loeys-Dietz syndrome type 1A (TGFBR1) D S Robinow syndrome (WNT5A)

D S Loeys-Dietz syndrome type 1B (TGFBR2) D S Rubinstein-Taybi syndrome (CREBBP)

D S Loeys-Dietz syndrome type 1C (SMAD3) D S Rubinstein-Taybi syndrome (EP300)

D S Loeys-Dietz syndrome type 2A (TGFBR1) D S Saethre-Chotzen syndrome (TWIST1)

D S Loeys-Dietz syndrome type 2B (TGFBR2) H D S Saethre-Chotzen syndrome (FGFR2)

D S Mandibulofacial dysostosis with microcephaly (EFTUD2) H D S Scaphocephaly, maxillary retrusion, and mental retardation (FGFR2)

H D S Marfan syndrome (FBN1) D S SC Phocomelia syndrome (ESCO2) D S Meier-Gorlin syndrome 1 (ORC1) D S Seckel syndrome type 1 (ATR) D S Meier-Gorlin syndrome 4 (CDT1) D S Seckel syndrome type 2 (RBBP8) D S Metaphyseal anadysplasia type 1 (MMP13) D S Seckel syndrome type 4 (CENPJ) D S Metaphyseal anadysplasia type 2 (MMP9) D S Seckel syndrome type 5 (CEP152) D S Metaphyseal dysplasia without hypotrichosis (RMRP) D S Seckel syndrome type 6 (CEP63) D S Microcephalic osteodysplastic primordial dwarfism type 1 (RNU4ATAC) D S Seckel syndrome type 8 (ATRIP) D S Microcephalic osteodysplastic primordial dwarfism type 2 (PCNT) D S Short stature syndrome (SHOX) D S Multicentric carpotarsal osteolysis syndrome (MAFB) D S Short stature syndrome (GHR) D S Multicentric osteolysis, nodulosis, and arthropathy (MMP2) D S Short-rib thoracic dysplasia type 4 with or without polydactyly (TTC21B) D S Multiple epiphyseal dysplasia type 3 (COL9A3) D S Short-rib thoracic dysplasia type 6 with or without polydactyly (NEK1) D S Multiple epiphyseal dysplasia type 5 (MATN3) D S Shprintzen-Goldberg syndrome (SKI) D S Nail-Patella syndrome (LMX1B) D S Split-hand/foot malformation type 6 (WNT10B) D S Omodysplasia type 1 (GPC6) D S Split-hand/foot malformation type 1 with sensorineural hearing loss (DLX5) D S Opsismodysplasia (INPPL1) D S Spondylocarpotarsal synostosis syndrome (FLNB) D S Orofacial cleft type 5 (MSX1) D S Spondylocostal dysostosis, autosomal recessive type 1 (DLL3) D S Orofacial cleft type 11 (BMP4) D S Spondylocostal dysostosis, autosomal recessive type 2 (MESP2) H D S Osteogenesis imperfecta (COL1A1) D S Spondylocostal dysostosis, autosomal recessive type 3 (LFNG) D S Osteogenesis imperfecta (COL1A2) D S Spondyloenchondrodysplasia with immune dysregulation (ACP5) D S Osteogenesis imperfecta type 5 (IFITM5) D S Spondyloepimetaphyseal dysplasia, MATN3-related (MATN3) D S Osteogenesis imperfecta type 7 (CRTAP) D S Spondyloepimetaphyseal dysplasia, Missouri type (MMP13) D S Osteogenesis imperfecta type 8 (LEPRE1) D S Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3) D S Osteogenesis imperfecta type 9 (PPIB) D S Spondylo-megaepiphyseal-metaphyseal dysplasia (NKX3-2) D S Osteogenesis imperfecta, type 10 (SERPINH1) D S Spondylometaepiphyseal dysplasia, short limb-hand type (DDR2) D S Osteogenesis imperfecta type 11 (FKBP10) D S Stuve-Wiedemann syndrome (LIFR) D S Osteogenesis imperfecta, type 12 (SP7) D S Terminal osseous dysplasis (FLNA) D S Osteogenesis imperfecta, type 13 (BMP1) D S Tetraamelia, autosomal recessive (WNT3) D S Osteogenesis imperfecta, type 14 (TMEM38B) D S Treacher Collins syndrome type I (TCOF1) D S Osteogenesis imperfecta with congenital joint contractures (PLOD2) D S Treacher Collins syndrome type 2 (POLR1D) D S Osteomyelitis, sterile multifocal, with periostitis and pustulosis (IL1RN) D S Treacher Collins syndrome type 3 (POLR1C) D S Osteopathia striata with cranial sclerosis (AMER1) D S Trichorhinophalangeal syndrome, type I (TRPS1) D S Osteopetrosis of infancy, malignant (SNX10) D S Ulna and fibula, absence of, with severe limb deficiency (WNT7A) D S Osteopetrosis, autosomal dominant type 1 (CLCN7) D S Ulnar-Mammary syndrome (TBX3) D S Osteopetrosis, autosomal recessive type 1 (TCIRG1) D S Van den Ende-Gupta syndrome (SCARF2) D S Osteopetrosis, autosomal recessive type 2 (TNFSF11) D S Van der Woude Syndrome (GRHL3) D S Osteopetrosis, autosomal recessive type 3 (CA2) D S Weaver syndrome (NSD1) D S Osteopetrosis, autosomal recessive type 4 (CLCN7) D S Weaver syndrome (EZH2) D S Osteopetrosis, autosomal recessive type 5 (OSTM1) D S Weill-Marchesani syndrome type 3 (LTBP2) D S Osteopetrosis, autosomal recessive type 6 (PLEKHM1) D S Winchester Syndrome (MMP14) D S Osteopetrosis, autosomal recessive type 7 (TNFRSF11A) D S Wolcott-Rallison syndrome (EIF2AK3) H D S Osteoporosis pseudoglioma syndrome (LRP5) D S Wolcott-Rallison syndrome (EIF2AK3)

Page 35/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 9. TUMORAL & HEMATOLOGICAL DISORDERS 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Disorders of the Immune System

NGS Panels: Generalized epilepsy with febrile seizures D S panel (GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A) D S Hemophagocytic Lymphohistiocytosis panel (PRF1, UNC13D, STX11, STXBP2) D S Periodic fever syndrome panel (ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1, TNFRSF1A) Single genes:

D S Atypical Mycobacterial infection (IKBKG) D S Immunodeficiency type 14 (PIK3CD)

D S Atypical Mycobacterial infection (IFNGR2) D S Autoimmune lymphoproliferative syndrome type 1A (FAS)

D S Atypical Mycobacterial infection (IL12RB1) D S Autoimmune lymphoproliferative syndrome type 1B (FASLG)

D S Atypical Mycobacterial infection (IL12RB2) D S Autoimmune lymphoproliferative syndrome type 2A (CASP10)

D S Atypical Mycobacterial infection (STAT1) D S Autoimmune lymphoproliferative syndrome type 2B (CASP8)

D S Autoimmune polyendocrinopathy syndrome type I (AIRE) H D S Autoimmune lymphoproliferative syndrome type 4 (NRAS)

D S Bare lymphocyte syndrome, type 2 (RFXANK) D S Immunodeficiency, isolated (IKBKG) D S C2 deficiency (C2) H D S Immunodeficiency with natural killer cell deficiency (MCM4) D S C3 deficiency (C3) D S Immunodeficiency, X-linked with hyper-IgM (CD40LG) Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus D S D S C7 deficiency (C7) infection and neoplasia (MAGT1) Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked D S Celiac disease, susceptibility to (HLA-DQA1) D S (FOXP3) D S Celiac disease, susceptibility to (HLA-DQB1) D S Immunological disorder, PECAM1-related (PECAM1) D S Chediak-Higashi syndrome (LYST) D S Interleukin 2 receptor deficiency (IL2RA) D S Cold autoinflammatory syndrome type 2 (NLRP12) D S Invasive pneumococcal disease, recurrent isolated type 2 (IKBKG) Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative D S (CYBA) D S Langerhans cell histiocytosis, ARAF-related (ARAF) Chronic granulomatous disease, autosomal recessive, cytochrome b- positive, type D S 1 (NCF1) H D S LIG4 syndrome (LIG4) Chronic granulomatous disease, autosomal recessive, cytochrome b- positive, type D S 2 (NCF2) D S Major histocompatibility comples 1 deficiency (MR1) Chronic granulomatous disease, autosomal recessive, cytochrome b- positive, type D S D S 3 (NCF4) Mediterranean fever (MEFV) D S Chronic granulomatous disease, X-linked (CYBB) D S Muckle-wells syndrome (NLRP3) D S Combined cellular and humoral immune defects with granulomas (RAG2) D S Mycobacterial infection, atypical, familial disseminated (IFNGR1) Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive D S (RAG2) D S Omenn syndrome (RAG2) D S Combined immunodeficiency, X-linked, moderate (IL2RG) D S Omenn syndrome (DCLRE1C) D S Diarrhea type 2 with microvillus atrophy (MYO5B) D S Periodic fever autosomal dominant (TNFRSF1A) Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper D S IgE (DSG1) D S Reticular dysgenesis (AK2) D S Hemophagocytic lymphohistiocytosis type 1 (PRF1) D S Rheumatoid arthritis, susceptibility to (AFF3) D S Hemophagocytic lymphohistiocytosis type 3 (UNC13D) D S Rheumatoid arthritis, TNFAIP3-related (TNFAIP3) D S Hemophagocytic lymphohistiocytosis type 4 (STX11) D S Schimke immunoosseous dysplasia (SMARCAL1) Severe combined immunodeficiency autosomal recessive T negative B D S Hemophagocytic lymphohistiocytosis type 5 (STXBP2) D S positive type (JAK3) D S Herpes simplex encephalitis type 2, susceptibility to (TLR3) D S Severe combined immunodeficiency due to ADA deficiency (ADA) Severe combined immunodeficiency with microcephaly, growth retardation, D S Hyper-IgE recurrent infection syndrome (STAT3) D S and sensitivity to ionizing radiation (NHEJ1) D S Hyper-IgE recurrent infection syndrome, autosomal recessive (DOCK8) D S Severe combined immunodeficiency, B cell-negative (RAG1) D S Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA) D S Systemic lupus erythematosus (DNASE1) D S Immunodeficiency common variable 1 (ICOS) D S Systemic lupus erythematosus, susceptibility to (ITGAM) D S Immunodeficiency, common variable type 7 (CR2) D S Vitiligo-associated multiple autoimmune disease (NLRP1) D S Immunodeficiency type 2, with hyper-IgM (AICDA) D S Vitiligo-associated multiple autoimmune disease (NLRP1) D S Immunodeficiency type 5, with hyper IgM (UNG)

Page 36/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 9. TUMORAL & HEMATOLOGICAL DISORDERS 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Other

NGS Panels:

S Arthrogryposis panel (TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2) D S Cornelia de Lange syndrome panel (HDAC8, NIPBL, RAD21, SMC1A, SMC3) D S Neurofibromatosis panel (NF1, NF2, SPRED1) D S Noonan - CFC syndrome panel (BRAF, CBL, HRAS, MAP2K1, KRAS, MAP2K2, NF1, NRAS, RAF1, PTPN11, SHOC2, SOS1, SPRED1) Single genes:

D S 3MC1 syndrome (MASP1) H D S Bifid nose (FREM1) D S 3MC2 syndrome (COLEC11) D S Bloom syndrome (BLM) D S ADULT syndrome, split hand-foot malformation (TP63) D S Cantu syndrome (ABCC9) D S Arthrogryposis, distal type 1 (TPM2) D S CLOVE syndrome (PIK3CA) D S Arthrogryposis, distal type 1 (MYBPC1) D S Cole disease (ENPP1) D S Arthrogryposis, distal type 2A (MYH3) D S Club foot (PITX1) D S Arthrogryposis, distal type 2B (TNNT3) D S Cockayne syndrome, type A (ERCC8) D S Arthrogryposis, distal type 2B (MYH3) D S Craniofrontonasal syndrome (EFNB1) D S Arthrogryposis, distal type 2B (TNNI2) D S Cornelia de Lange syndrome type 1 (NIPBL) D S Arthrogryposis, distal type 7 (MYH8) D S Cornelia de Lange syndrome type 2 (SMC1A) D S Arthrogryposis, distal type 9 (FBN2) H D S Cornelia de Lange syndrome type 3 (SMC3) D S Arthrogryposis, mental retardation and seizures (SLC35A3) D S Cornelia de Lange syndrome type 4 (RAD21) D S Arthrogryposis, renal dysfunction and cholestasis (VPS33B) D S Cornelia de Lange syndrome type 5 (HDAC8) D S Autoinflammation, lipodystrophy and dermatosis syndrome (PSMB8) D S Currarino syndrome (MNX1) D S Auriculocondylar syndrome (GNA13) D S Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (TP63) Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial D S D S hyperostosis (COX412) Auriculocondylar syndrome type 2 (PLCB4) D S Faciogenital dysplasia, Aarskog-Scott syndrome (FGD1)

D S Feingold syndrome (MYCN) D S Multiple pterygium syndrome lethal type (CHRND) D S Feingold syndrome type 2 (MIR17HG) D S Neurofibromatosis type 1 (NF1) D S Fetal akinesia deformation sequence (DOK7) D S Neurofibromatosis type 1 (SPRED1) D S Fetal akinesia deformation sequence (RAPSN) D S Neurofibromatosis type 2 (NF2) D S Fraser syndrome (GRIP1) D S Noonan syndrome like (SHOC2) D S Fraser syndrome (FREM2) D S Noonan syndrome type 1 (PTPN11) D S Frasier syndrome (WT1) D S Noonan syndrome type 3 (KRAS) D S Genitopatellar syndrome (KAT6B) D S Noonan syndrome type 4 (SOS1) D S Hamamy syndrome (IRX5) D S Noonan syndrome type 5 (RAF1) D S IMAGe syndrome (CDKN1C) H D S Noonan syndrome type 6 (NRAS) D S Jawad syndrome (RBBP8) H D S Noonan syndrome type 7 (BRAF) Noonan syndrome-like disorder with or without juvenile meylomonocytic D S D S KBG syndrome (ANKRD11) leukemia (CBL) D S Keutel syndrome (MGP) D S Oral-facial-digital syndrome type 1 (OFD1) D S LADD syndrome (FGF10) D S Oral-facial-digital syndrome type 4 (TCTN3) H D S LADD syndrome (FGFR2) D S Oral-facial-digital syndrome type 5 (DDX59) H D S LEOPARD syndrome 3 (BRAF) D S Orofaciodigital syndrome type 14 (C2CD3) D S Lethal congenital contracture syndrome 4 (MYBPC1) D S Otofaciocervical syndrome (EYA1) D S Limb-mammary syndrome (TP63) D S Popliteal pterygium syndrome, lethal type (RIPK4) D S Lymphedema-distichiasis syndrome (FOXC2) D S Pterygium syndrome (CHRNG) D S Majeed syndrome (LPIN2) D S Syndactyly type 1 (HOXD13) D S Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24) D S Syndactyly type 5 (HOXD13) H D S McKusick-Kaufman syndrome (MKKS) D S Toe syndactyly, telecanthus, and anogenital andrenal malformations (FAM58A) Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital D S D S heart defects (B3GAT3) VACTERL association (HOXD13) D S Multiple pterygium syndrome lethal type (CHRNA1) D S Vici syndrome (EPG5)

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GENETIC TESTING REQUISITION 9. TUMORAL & HEMATOLOGICAL DISORDERS 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Please indicate requests for Hot Spot (H), Exon (E), Repeat (R), Sequencing (S), and/or Deletion/Duplication (D) analysis

Tumors & Solid Malignancies

NGS Panels:

H D S BRCA panel (BRCA1, BRCA2) D S (ATM, BARD1, BRIP1, CDH1, CHEK2, MRE11A, MSH6, NBN, PALB2, PTEN, RAD51, RAD51C, STK11, TP53) Breast ovarian cancer panel D S (APC, BMPR1A, ENG, EPCAM, FLCN, MLH1, MSH2, MSH3, MSH6, MUTYH, PMS1, PMS2, PTEN, SMAD4, STK11) Colon cancer and polyposis syndrome panel D S (NF1, NF2, SPRED1) Neurofibromatosis panel D S (MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL) Pheochromocytoma panel D S (TSC1, TSC2) Tuberous sclerosis panel Single genes:

D S Accelerated tumor formation, susceptibility to (MDM2) D S Glioma, MGMT related (MGMT) D S ACIN1 related tumors (ACIN1) D S Glioma, susceptibility to, somatic (IDH1)

D S ARF-related tumors (ARF) D S Glioma, susceptibility to, somatic (IDH2) D S Ataxia-telangiectasia (ATM) D S Glioma, VN1R4-related (VN1R4) D S Basal cell carcinoma, somatic (SMO) D S Hemangioma capillary infantile, somatic (KDR) D S Basal cell nevus syndrome, Gorlin syndrome (PTCH1) D S Juvenile polyposis syndrome (BMPR1A) D Beckwith-Wiedemann syndrome (chr. 11p15) D S Juvenile polyposis syndrome (SMAD4) D S Beckwith-Wiedemann syndrome (CDKN1C) D S Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4) D S Beckwith-Wiedemann syndrome (NSD1) D S KIAA1107-related tumors (KIAA1107) D S Beckwith-Wiedemann syndrome (KCNQ1OT1) D S KEAP1-related tumors (KEAP1) D S Beckwith-Wiedemann syndrome (H19) D S Li-Fraumeni syndrome type 1 (TP53) D S Birt-Hogg-Dube syndrome (FLCN) D S Li-Fraumeni syndrome type 2 (CHEK2) D S Bloom syndrome (BLM) H D S Lung cancer (BRAF) D S BRD4-related tumors (BRD4) D S Lung cancer (EEML4) H D S Breast cancer (PALB2) D S Lung cancer (EGFR) D S Breast cancer (BARD1) D S Lung cancer (ERBB2) H D S Breast-ovarian cancer (BRCA1) D S Lung cancer (MYCL) H D S Breast-ovarian cancer (BRCA2) D S Lung cancer, KIF5B-related (KIF5B) D S Breast-ovarian cancer (RAD51C) D S MAML3-related tumors (MAML3) D S Breast-ovarian cancer (RAD51D) D S Medulloblastoma, CIC related (CIC) D S CCND1-related tumors (CCND1) D S Medulloblastoma (CROCC) D S CCNE1-related tumors (CCNE1) D S Melanoma, cutaneous malignant (CDKN2A) D S CDH2-related tumors (CDH2) D S Melanoma, cutaneous malignant (CDKN2B) D S CDK6-related tumors (CDK6) D S Melanoma, cutaneous malignant (CDK4) D S CD74-related tumors (CD74) D S Melanoma, cutaneous malignant (MC1R) D S Chemotherapeutic drug resistance, NFE2L2-related (NFE2L2) D S Melanoma, cutaneous malignant (MITF) D S Chondrosarcoma (EXT1) D S Melanoma and non-melanoma skin cancers, GNG2-related (GNG2) D S Colorectal adenomatous polyposis (APC) D S MTOR- related tumors (MTOR) D S Colorectal adenomatous polyposis (MUTYH) D S Multiple endocrine neoplasia type 1 (MEN1) H D S Colorectal cancer, hereditary (NRAS) H D S Multiple endocrine neoplasia type 2A (RET) D S Colorectal cancer, hereditary nonpolyposis type 1 (MSH2) H D S Multiple endocrine neoplasia type 2B (RET) D S Colorectal cancer, hereditary nonpolyposis type 2 (MLH1) D S MYC-related tumors (MYC) D S Colorectal cancer, hereditary nonpolyposis type 4 (PMS2) D S Neuroblastoma (ALK) D S Colorectal cancer, hereditary nonpolyposis type 5 (MSH6) D S Neurofibromatosis type 1 (NF1) D S Colorectal cancer, hereditary nonpolyposis type 6 (TGFBR2) D S Neurofibromatosis type 1 (SPRED1) D S Colorectal cancer, hereditary nonpolyposis type 7 (MLH3) D S Neurofibromatosis type 2 (NF2) D S Colorectal cancer, hereditary nonpolyposis type 8 (EPCAM) D S Nonpolyposis colon cancer (PMS1) D S Colorectal cancer, somatic (FLCN) D S NFE2L2-related tumors (NFE2L2) D S Colorectal cancer, somatic (CTNNB1) D S NR1I2-related tumors (NR1I2) D S Colorectal cancer, somatic (MXRA5) H D S Pancreatic cancer (PALB2)

D S Cowden disease (PTEN) D S Paragangliomas type 4 (SDHB) D S Cowden disease (AKT1) D S Perlman Syndrome (DIS3L2) H D S Endometrial carcinoma (MSH3) D S Peutz-Jeghers syndrome (STK11) D S ERG related tumors (ERG) D S Pheochromocytoma type 1 (SDHA)

D S Gastric cancer, hereditary diffuse (CDH1) D S Pheochromocytoma type 2 (SDHB) H D S Gastric carcer (MUC1) D S Pheochromocytoma type 3 (SDHC) D S Gastrointestinal stromal tumor (KIT) D S Pheochromocytoma type 4 (SDHD) D S Gastrointestinal stromal tumor, somatic (PDGFRA) D S Pheochromocytoma type 5 (SDHAF2) D S Glioma, BAI3 deficiency-related (BAI3) Page 38/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 9. TUMORAL & HEMATOLOGICAL DISORDERS 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Tumors & Solid Malignancies (continued)

D S Pheochromocytoma type 6 (VHL) D S Prostate cancer (STAG1) D S Pheochromocytoma type 8 (TMEM127) D S Renal cell carcinoma, papillary type 1 (MET) D S Pheochromocytoma type 9 (MAX) D S Renal chromophobe somatic carcinoma (FLCN) D S Pituitary adenoma, growth hormone secreting (GNAS) D S Retinoblastoma (RB1) D S Pituitary adenoma, growth hormone-secreting (AIP) D S RICTOR-related tumors (RICTOR) D S Pleuropulmonary blastoma (DICER1) D S RPTOR-related tumors (RPTOR) D S Polyposis syndrome, hereditary mixed (GREM1) D S Thyroid carcinoma Hurthle cell (NDUFA13) D S Polyposis syndrome, hereditary mixed type 2 (BMPR1A) D S TJP1-related tumors (TJP1) D S Prostate cancer (PMEPA1) S D Tuberous sclerosis (TSC1) D S Prostate cancer (ELAC2) S D Tuberous sclerosis (TSC2) D S Prostate cancer (RNASEL) D S Tumor related CDK11A-deficiency (CDK11A) D S Prostate cancer (BRCA2) D S Tylosis with esophageal cancer (RHBDF2) D S Prostate cancer (SRD5A2) D S von Hippel-Lindau syndrome (VHL) D S Prostate cancer (ZNF783) D S Wilms tumor type 1 (WT1)

Hematological Disorders & Malignancies

NGS Panels: D S Diamond-Blackfan anemia (RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7) D S Fanconi anemia panel (BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, XRCC2) S Megaloblastic anemia panel (AMN, CUBN, GIF) S Spherocytosis panel (ANK1, EPB42, SLC4A1, SPTA1, SPTB) D S Thrombocytopenia panel (ADAMTS13, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MASTL, MYH9, MPL, RUNX1, WAS) Single genes:

D S Afibrinogenemia, congenital (FGG) D S Factor II deficiency (F2) D S Afibrinogenemia, congenital (FGB) E Factor V deficiency (F5) D S Afibrinogenemia, congenital (FGA) D S Factor X deficiency (F10) D S Agammaglobulinemia, X-linked (BTK) D S Factor XI deficiency (F11) D S Alpha-2-macroglobulin deficiency (A2M) D S Factor XII deficiency (F12) D S Alpha-Thalassemia Myelodysplasia Syndrome, somatic (ATRX) D S Factor XIIIA deficiency H D S Anemia dyserythropoietic type 2 (CDAN1) H D S Fanconi anemia - XRCCR2 related (XRCC2) R S Anemia dyserythropoietic type 2 (SEC23B) H D S Fanconi anemia type A (FANCA) D S Anemia, neonatal hemolytic, fatal and near-fatal (SPTB) D S Fanconi anemia type B (FANCB) D S Anemia X linked (GATA1) H D S Fanconi anemia type C (FANCC) D S Aplastic anemia (TERC) D S Fanconi anemia type D1 (BRCA2) D S Aplastic anemia (TERT) H D S Fanconi anemia type D2 (FANCD2) D S Aplastic anemia (IFNG) D S Fanconi anemia type E (FANCE) D S Aplastic anemia (NBN) D S Fanconi anemia type F (FANCF) D S Aplastic anemia (PRF1) D S Fanconi anemia type G (FANCG) D S Aplastic anemia (SBDS) H D S Fanconi anemia type I (FANCI) D S Bone marrow failure (SRP72) H D S Fanconi anemia type J (BRIP1) D S Dehydrated hereditary stomatocytosis (PIEZO1) D S Fanconi anemia type L (FANCL) D S Diamond-Blackfan anemia type 1 (RPS19) D S Fanconi anemia type M (FANCM) D S Diamond-blackfan anemia type 3 (RPS24) H D S Fanconi anemia type N (PALB2) D S Diamond-Blackfan anemia type 4 (RPS17) D S Fanconi anemia type P (SLX4) D S Diamond-Blackfan anemia type 5 (RPL35A) D S Hemangioma capillary infantile (ANTXR1) D S Diamond-Blackfan anemia type 6 (RPL5) D S Hemochromatosis classical (HFE) D S Diamond-Blackfan anemia type 7 (RPL11) D S Hemochromatosis type 2A (HFE2) D S Diamond-Blackfan anemia type 8 (RPS7) D S Hemochromatosis type 2B (HAMP) D S Diamond-Blackfan anemia type 9 (RPS10) D S Hemochromatosis type 3 (TFR2) D S Diamond-Blackfan anemia type 10 (RPS26) D S Hemochromatosis type 4 (SLC40A1) D S Dyserythropoietic anemia (COX4I2) D S Hemophilia A (F8) D S Dyserythropoietic anemia, congenital type Ib (C15orf41) D S Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA) D S Dyserythropoietic anemia, congenital type 3 (KIF23) D S Intrinsic factor deficiency (GIF) D S Dyserythropoietic anemia, congenital type 4 (KLF1) D S Leukemia (PKHD1L1) D S Epstein syndrome (MYH9) D S Leukemia (M8D1) H D S Erythrocytosis, familial type 1 (SH2B3) D S Leukemia (MCM3AP) D S Erythrocytosis, familial type 3 (EGLN1) D S Leukemia (ZNF233) D S Erythrocytosis, familial type 4 (EPAS1)

Page 39/38 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V1 Jan2015

GENETIC TESTING REQUISITION 9. TUMORAL & HEMATOLOGICAL DISORDERS 1-844-363-4357 · [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Hematological Disorders & Malignancies (continued)

D S Leukemia, acute lymphoblastic (BRC) D S Myeloproliferative disorder, chronic, with eosinophilia (PDGFRB) D S Leukemia, acute lymphoblastic (FLT3) D S Neutropenia, severe congenital type 1 (ELANE) D S Leukemia megakaryoblastic of Down syndrome (GATA1) D S Neutropenia, severe congenital type 3 (HAX1) D S Leukemia, acute myeloid (CEBPA) D S Neutrophilia, hereditary (CSF3R) D S Leukemia, acute myeloid (FLT3) D S Ovalocytosis (SLC4A1) D S Leukemia, acute myeloid (MLF1) D S Platelet aggregation disorder (PEAR1) D S Leukemia, acute myeloid (NPM1) D S Platelet dense granule secretion defect, excessive bleeding (FLI1) D S Leukemia, acute myeloid (NUP214) D S Platelet disorder with associated myeloid malignancy (RUNX1) H D S Leukemia, acute myeloid (PICALM) D S Shwachman-Diamond syndrome (SBDS) D S Leukemia, acute myeloid (RUNX1) D S Sickle cell anemia (HBB) D S Leukemia, acute nonlymphocytic (DEK) D S Spherocytosis type 1 (ANK1) D S Leukemia, acute promyelocytic (NUMA1) D S Spherocytosis type 2 (SPTB) D S Leukemia, acute promyelocytic (PML) D S Spherocytosis type 3 (SPTA1) D S Leukemia, atypical chonic (CSF3R) D S Spherocytosis type 5 (EPB42) D S Leukemia, chronic myeloid (BRC) D S Thalassemia, alpha (HBA1) D S Leukemia, lymphocytic (GGT5) D S Thalassemia, alpha (HBA2) D S Leukemia, Philadelphia chromosome-positive, resistant to imatinib (ABL1) D S Thalassemia, delta (HBD) D S Leukemia, ZNF521-related (ZNF521) D S Thalassemia, delta-beta (HBB) D S Leukemia/Lymphoma, B-cell type (t(14:18)) D S Thrombocytopenia type 2 (MASTL) D S Leukemia/Lymphoma, B-cell type (t(11:14)) D S Thrombocytopenia X linked (GATA1) D S Leukemia/Lymphoma, B-cell type (BCL3) D S Thrombocytopenia X linked intermittent (WAS)

D S Lymphoma (BCL6) D S Thromocytopenia-Absent-Radius-Syndrome (RBM8A) D S Lymphoma, Burkitt (MYC) D S Thrombocytopenia congenital amegakaryocytic (MPL) D S Lymphoproliferative syndrome 1 (ITK) D S Thrombocytopenia, neonatal alloimmune (ITGA2B) D S Lymphoproliferative syndrome, X-linked type 1 (SH2D1A) D S Thrombocytopenia, neonatal alloimmune (ITGB3) D S Lymphoproliferative syndrome, X-linked type 2 (XIAP) D S Thrombocytopenia with beta thalassemia X-linked (GATA1) D S Lutheran inhibitor blood group (KLF1) D S Thrombosis, inflammation, autoimmune diseases (ENTPD1) D S Megaloblastic anemia type 1 (AMN) D S Thrombotic thrombocytopenic purpura (ADAMTS13) D S Megaloblastic anemia type 1 (CUBN) D S von Willebrand disease (VWF) D S Megaloblastic anemia syndrome, thiamine-responsive (SLC19A2) D S von Willebrand disease platelet type (GP1BA) H D S Myelodysplastic syndrome susceptibility (TET2) D S Wiedemann-Steiner syndrome (MLL)

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