GENETIC TESTING REQUISITION

1-844-363-4357· [email protected] 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 1/6 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 Oct 2014

GENETIC TESTING REQUISITION METABOLIC 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 , 10mL for panel)

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

□ *Filter card (1 card/30 exons: Available by request) LifeLabs Demographic Label □ 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 Testing Gene:______Mutation (HGVS):______□Familial Report attached

Testing Instructions: (ex: Reflex order) ** PLEASE INCLUDE A COPY OF REQUISITION WITH SAMPLES **

Page 2/6 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 Oct 2014

GENETIC TESTING REQUISITION 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, ASS1, CPS1, NAGS, OTC) Single : D S 3-Hydroxy-3-methylglutaryl-CoA lyase (HMG-Co Lyase) deficiency (HMGCL) D S Maple syrup urine disease type 1A (BCKDHA) D S 3-Methylglutaconic aciduria type 1 (AUH) D S Maple syrup urine disease type 1B (BCKDHB) D S 3-Methylglutaconic aciduria type 3 (OPA3) D S Maple syrup urine disease type 2 (DBT) D S 3-Methylcrotonyl-CoA carboxylase 1 (3-MCC) deficiency (MCCC1) D S Maple syrup urine disease type 3 (DLD) D S 3-Methylcrotonyl-CoA carboxylase 2 (3-MCC) deficiency (MCCC2) D S Methylacetoacetic aciduria (ACAT1) D S Alkaptonuria (HGD) D S Methylcobalamin deficiency CblG type (MTR) D S Alpha methylacyl CoA racemase deficiency (AMACR) D S Methylmalonic aciduria CbIA type (MMAA) H D S Aminoacylase deficiency (ACY1) D S Methylmalonic aciduria CblB type (MMAB) D S Arginase deficiency (ARG1) D S Methylmalonic aciduria CbIC type (MMACHC) D S Arginine-glycine amidinotransferase deficiency (GATM) D S Methylmalonic aciduria Cb1D type (MMADHC) D S Argininosuccinic aciduria (ASL) D S Methylmalonic aciduria Cb1F type (LMBRD1) D S Asparagine synthetase deficiency (ASNS) D S Methylmalonic aciduria Cb1J type (ABCD4) D S Biotinidase deficiency (BTD) D S Methylmalonic aciduria CbIR type (CD320) D S Carbamoylphosphate synthetase I deficiency (CPS1) D S Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MUT) D S Combined malonic and methylmalonic aciduria (ACSF3) D S Methylmalonyl-CoA epimerase deficiency (MCEE) D S Citrin deficiency (SLC25A13) D S Mevalonic aciduria (MVK) D S Citrullinemia (ASS1) D S Molybdenum cofactor deficiency type A (MOCS1) D S D-2-hydroxyglutaric aciduria (D2HGDH) D S Molybdenum cofactor deficiency type B (MOCS2) D S Fumarase deficiency (FH) 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- 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 Lysinuric protein intolerance (SLC7A7) D S Tyrosinemia type 1B (GSTZ1) 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) H D S Glycogen storage disease type 1A, Von-Gierke diease (G6PC) D S Fructose intolerance (ALDOB) H D S Glycogen storage disease type 1B (SLC37A4) D S Fructose-1,6-bisphosphatase deficiency (FBP1) H D S Glycogen storage disease type 1C (SLC37A4) D S Fructosuria essential (KHK) D S Glycogen storage disease type 2, Pompe disease (GAA) D S Galactosemia (GALT) D S Glycogen storage disease type 3 (AGL) D S Galactokinase deficiency (GALK1) D S Glycogen storage disease type 4 (GBE1) D S Galactose epimerase deficiency (GALE) H D S Glycogen storage disease type 5 (PYGM) Glucose-6-phosphate deficiency with nonspherocytic hemolytic D S D S anemia (G6PD) Glycogen storage disease type 6B (PYGL) D S Glucose/Galactose malabsorption (SLC5A1) D S Glycogen storage disease type 7 (PFKM) D S Lactoase intolorance, Adult type (MCM6) D S Glycogen storage disease type 9A (PHKA2) D S Pyruvate carboxylase deficiency (PC) D S Glycogen storage disease type 9B (PHKB) D S E1-alpha deficiency (PDHA1) D S Glycogen storage disease type 9C (PHKG2) D S Pyruvate dehydrogenase E1-beta deficiency (PDHB) H D S Glycogen storage disease type 10 (PGAM2) D S Pyruvate dehydrogenase E2 deficiency (DLAT) 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) D S Glycogen storage disease type 0 (GYS2) D S Glycogen storage disease type 15 (GYG1) D S Glycogen storage disease type 0 muscle (GYS1)

Page 3/6 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 Oct 2014

GENETIC TESTING REQUISITION 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 4/6 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 Oct 2014

GENETIC TESTING REQUISITION 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: (GBA (8 mut), CFTR (26 mut), HEXA (7mut), IKBKAP (2 mut), ASPA (4 mut), G6PC (2 mut) ABCC8 (2 mut), MCOLN1 (2 mut), S Advanced Ashkenazi (Sanger) panel BCKDHB (3mut), FANCC (2 mut), DLD (2 mut), SMPD1 (4 mut), CLRN1 (1 mut), PCDH15 (1mut), BLM (1mut), NEB (1 mut)) S Basic Ashkenazi (Sanger) panel (HEXA (7 ), 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 Fish eye disease (LCAT) H D S Antitrypsin-alpha-1 deficiency (SERPINA1) H D S Gallbladder disease type 1 (ABCB4) D S Amyloidosis, familial visceral (APOA1) R S Glucocorticoid deficiency type 1 (MC2R) D S Apolipoprotein C-II deficiency (APOC2) D S Glucocorticoid deficiency type 2 (MRAP) H D S Apolipoprotein E deficiency (APOE) D S GRACILE syndrome (BCS1L) D S Apparent mineralocorticoid excess (HSD11B2) D S Hyperlipoproteinemia type 1 (LPL) R Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency (ST6GAL2) D S Hypermanganesemia with dystonia, polycythemia and cirrhosis (SLC30A10) H D S Bile acid synthesis defect (CYP7B1) D S Hyperoxaluria type 1 (AGXT) D S Bloom syndrome (BLM) D S Hyperoxaluria type 2 (GRHPR) D S Bronchiectasis with or without elevated sweat chloride type 2 (SCNN1A) D S Hypoalphalipoproteinemia (APOA1) H D S Cholestasis (intrahepatic) of pregnancy (ABCB4) D S Hypocalcemia, autosomal dominant 2 (GNA11) D S Cholestasis progressive intrahepatic type 1 (ATP8B1) D S Hypercalcemia infantile type (CYP24A1) D S Cholestasis progressive intrahepatic type 2 (ABCB11) D S Hypocalciuric hypercalcemia, familial, type 3 (AP2S1) H D S Cholestasis progressive intrahepatic type 3 (ABCB4) D S Hypercholesterolemia (ABCA1) D S Colchicine resistance (ABCB1) D S Hypercholesterolemia autosomal dominant type 3 (PCSK9) D S Combined oxidative phosphorylation deficiency type 1 (GFM1) D S Hypercholesterolemia autosomal recessive (LDLRAP1) Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant D S D S Combined oxidative phosphorylation deficiency type 2 (MRPS16) (LDLR) D S Combined oxidative phosphorylation deficiency type 3 (TSFM) H D S Hypercholesterolemia type B autosomanl dominant (APOB) D S Combined oxidative phosphorylation deficiency type 4 (TUFM) D S Hypercholesterolemia, familial (GHR) D S Combined oxidative phosphorylation deficiency type 6 (AIFM1) D S Hypercholanemia (BAAT) D S Combined oxidative phosphorylation deficiency type 7 (C12ORF65) D S Hypercholanemia (TJP2) D S Combined oxidative phosphorylation deficiency type 9 (MRPL3) D S Hypomagnesemia type 1 (TRPM6) D S Combined oxidative phosphorylation deficiency type 15 (MTFMT) D S Hypomagnesemia type 2 (FXYD2) D S C oxidase deficiency (COX6B1) D S Hypomagnesemia type 3 (CLDN16) D S Creatine deficiency syndrome X-linked (SLC6A8) D S Hypomagnesemia type 4 (EGF) D S CYP2C19-related poor drug metabolism (CYP2C19) D S Hypomagnesemia type 5 (CLDN19) D S CYP2D6-related poor drug metabolism (CYP2D6) D S Hypomagnesemia type 6 (CNNM2) D S Cytochrome P450 deficiency (CYP1A2) D S L-2-hydroxyglutaric aciduria (L2HGDH) D S Cystic fibrosis (CFTR) D S Lacticacidemia due to PDX1 deficiency (PDHX)

Page 5/6 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 Oct 2014

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

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

Page 6/6 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 Oct 2014