GENETIC TESTING REQUISITION Please Ship All

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 LL: K012-01/ CML: CEN CONTRACT #

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)

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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.

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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 1/12 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 V3 Oct2014

GENETIC TESTING REQUISITION NEUROMUSCULAR & DEVELOPMENTAL DELAY 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) □ LifeLabs Demographic □ Saliva (Oragene OG-510: Available by request) Label

□ 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

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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) ** PLEASE INCLUDE A COPY OF REQUISITION WITH SAMPLES **

Page 2/12 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 V3 Oct2014

GENETIC TESTING REQUISITION 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 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 3/12 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 V3 Oct2014

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) D S Essential hereditary tremor type 4 (FUS) S D Chorea, hereditary benign (NKX2-1) E R Huntington disease (HTT) S D Choreoacanthocytosis (VPS13A) H S Huntington disease-like type 1 (PRNP) S D Dystonia, juvenile-onset (ACTB) E R Huntington disease-like type 2 (JPH3) S D Dystonia, DOPA-responsive, autosomal recessive (SPR) D S Mirror movements, congenital (RAD51) S D Dystonia 1 (TOR1A) S D Paroxysmal nonkinesigenic dyskinesia (PNKD) S D Dystonia 3 (TAF1) H S D Parkinson Disease, PARK1, autosomal dominant (SNCA) S D Dystonia 4 (TUBB4A) H S D Parkinson Disease, PARK2, autosomal recessive (PARK2) S D Dystonia 5A (GCH1) S D Parkinson Disease, PARK5, autosomal dominant (UCHL1) S D Dystonia 5A (TH) S D Parkinson Disease, PARK6, autosomal recessive (PINK1) S D Dystonia 6 (THAP1) S D Parkinson Disease, PARK7, autosomal recessive (PARK7) H S D Dystonia 8 (SLC2A1) S D Parkinson Disease, PARK8, autosomal dominant (LRRK2) S D Dystonia 10 (PRRT2) S D Parkinson Disease, PARK9, autosomal recessive (ATP13A2) S D Dystonia 11 (SGCE) S D Parkinson Disease, PARK14, autosomal recessive (PLA2G6) S D Dystonia 12 (ATP1A3) S D Parkinson Disease, PARK15, autosomal recessive (FBXO7) S D Dystonia 16 (PRKRA) S D Parkinson Disease, PARK19, autosomal recessive (DNAJC6) H S D Dystonia 18 (SLC2A1) S D Parkinson Disease, PARK13, autosomal dominant (HTRA2) S D Dystonia 24 (ANO3) S D Parkinson Disease, PARK17, autosomal dominant (VPS35) S D Dystonia 25 (GNAL) S D Parkinson Disease, PARK20, autosomal recessive (SYNJ1) S D Dyskinesia, familial, with facial myokymia (ADCY5) S D Parkinsonism-Dystonia, infantile (SLC6A3)

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) 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) Page 4/12 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 V3 Oct2014

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

Dementias (continued)

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)

Muscular Disorders

NGS Panels: (COL6A1, COL6A2, COL6A3, COL12A1) S Bethlem myopathy panel

Page 5/12 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 V3 Oct2014

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 2K (POMT1)

D S Bethlem myopathy (COL6A2) D S Limb-girdle muscular dystrophy, autosomal recessive type 2L (ANO5)

D S Bethlem myopathy (COL6A3) D S Limb-girdle muscular dystrophy, autosomal recessive type 2M (FKTN)

D S Bethlem myopathy (COL12A1) D S Limb-girdle muscular dystrophy, autosomal recessive type 2N (POMT1)

D S Brody myopathy (ATP2A1) D S Limb-girdle muscular dystrophy, autosomal recessive type 2P (DAG1)

D S Central core disease of muscle (RYR1) D S Malignant hyperthermia (RYR1)

D S Centronuclear myopathy (DNM2) H D S Malignant hyperthermia type 5 (CACNA1S)

D S Centronuclear myopathy type 1 (MTMR14) D S Minicore myopathy with external ophthalmoplegia (RYR1)

D S Centronuclear myopathy type 2 (BIN1) D S Miyoshi myopathy (DYSF)

D S Centronuclear myopathy type 3 (MYF6) D S Muscle hypertrophy (MSTN)

D S Centronuclear myopathy type 4 (CCDC78) D S Muscular dystrophy type 1A (LAMA2)

D S Compton-North congenital myopathy (CNTN1) D S Muscular dystrophy type 1C (FKRP)

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

H D S Creatine phosphokinase, elevated serum (CAV3) D S Muscular dystrophy, Becker type (DMD) Congenital muscular dystrophy-dystroglycanopathy with brain and eye D S D S Muscular dystrophy, Duchenne type (DMD) anomalies,type A (POMGNT1) Congenital muscular dystrophy-dystroglycanopathy with brain and eye D S R S Muscular dystrophy, oculopharyngeal (PABPN1) anomalies,type A13 (B3GNT1) D S Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2) D S Myasthenic syndrome, congenital (CHRNE)

D S Emery-Dreifuss muscular dystrophy type 1 (EMD) D S Myasthenic syndrome, congenital (CHAT)

H D S Emery-Dreifuss muscular dystrophy type 2 (LMNA) D S Myasthenic syndrome, congenital (CHRNB1) Myasthenic syndrome, congenital, associated with acetylcholine receptor D S Emery-Dreifuss muscular dystrophy type 4 (SYNE1) D S deficiency (RAPSN) D S Emery-Dreifuss muscular dystrophy type 5 (SYNE2) D S Myasthenia syndrome, congenital with tubular aggregates 1 (GFPT1)

D S Emery-Dreifuss muscular dystrophy type 6 (FHL1) D S Myasthenic syndrome fast channel congenital (CHRNA1)

D S Endplate acetylcholinesterase deficiency (COLQ) D S Myasthenic syndrome fast channel congenital (CHRND)

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

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

D S Fibrodysplasia ossificans progressiva (ACVR1) D S Myasthenia syndrome, familial limb-girdle (AGRN)

Myasthenic syndrome associated with acetylcholine receptor deficiency D Facioscapulohumeral muscular dystrophy type 1 (D4Z4) D S (MUSK) D S Filaminopathy (FLNC) D S Myasthenic syndrome due to mutation in SCN4A (SCN4A)

D S Fukuyama congenital muscular dystrophy (FKTN) D S Myoglobinuria acute recurrent (LPIN1)

Myopathy, desmin-related, associated with mutation in the CRYAB gene E D Hereditary myopathy with early respiratory failure (TTN) D S (CRYAB) D S Hyperkalemic periodic paralysis (SCN4A) H D S Myopathy, distal type 1 (MYH7)

H D S Hypokalemic periodic paralysis type 1 (CACNA1S) D S Myopathy, distal type 2 (MATR3) D S Inclusion body myopathy (GNE) D S Myopathy, distal type 4 (FLNC)

D S Limb-girdle muscular dystrophy, autosomal dominant type 1A (MYOT) D S Myopathy, distal with anterior tibial onset (DYSF)

H D S Limb-girdle muscular dystrophy, autosomal dominant type 1B (LMNA) H D S Myopathy, distal with decreased Caveolin 3 (CAV3) H D S Limb-girdle muscular dystrophy, autosomal dominant type 1C (CAV3) D S Myopathy due to Integrin 7A deficiency (ITGA7) D S Limb-girdle muscular dystrophy, autosomal dominant type 1E (DNAJB6) E D Myopathy, early-onset with fatal cardiomyopathy (TTN)

D S Limb-girdle muscular dystrophy, autosomal recessive type 2A (CAPN3) 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 2B (DYSF) D S and developmental delay (GFER) D S Limb-girdle muscular dystrophy, autosomal recessive type 2C (SGCG) D S Myopathy, myofibrillar 6 (BAG3) D S Limb-girdle muscular dystrophy, autosomal recessive type 2D (SGCA) H D S Myopathy, myofibrillar, Desmin-related (DES) D S Limb-girdle muscular dystrophy, autosomal recessive type 2E (SGCB) D S Myopathy, myofibrillar, ZASP-related (LDB3) D S Limb-girdle muscular dystrophy, autosomal recessice type 2F (SGCD) D S Myopathy with fiber-type disproportion (ACTA1) D S Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G (TCAP) D S Myopathy with fiber-type disproportion (SEPN1) H D S Limb-girdle muscular dystrophy, autosomal recessive type 2H (TRIM32) D S Myosclerosis, autosomal recessive (COL6A2) D S Limb-girdle muscular dystrophy, autosomal recessive type 2I (FKRP) H D S Myosin storage myopathy (MYH7) E D Limb-Girdle Muscular Dystrophy, autosomal recessive type 2J (TTN) D S Myotilinopathy (MYOT)

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D S Myotonia congenita (CLCN1) H D S Scapuloperoneal myopathy, MYH7 related (MYH7) E R Myotonic dystrophy type 1 (DMPK) D S Schwartz-Jampel syndrome (HSPG2) E R Myotonic dystrophy type 2 (CNBP) D S Spheroid body myopathy (MYOT) D S Myotubular myopathy X-linked (MTM1) D S Spinal muscular atrophy (SMA) (SMN1) S NEB Next Generation Sequencing (NEB) D Spinal muscular atrophy (SMA), NAIP related (NAIP) D S Nemaline myopathy type 1 (TPM3) D S Spinal muscular atrophy (SMA), type 3 (SMN2) D S Nemaline myopathy type 3 (ACTA1) D S Spinal muscular atrophy, distal, X-linked (ATP7A) D S Nemaline myopathy type 4 (TPM2) D S Spinal muscular atrophy, lower extremity, autosomal dominant type 1 (DYNC1H1) D S Nemaline myopathy type 5 (TNNT1) D S Spinal muscular atrophy, lower extremity, autosomal dominant type 2 (BICD2) D S Nemaline myopathy type 6 (KBTBD13) S SYNE1 Next Generation Sequencing (SYNE1) D S Nemaline myopathy type 7 (CFL2) S SYNE2 Next Generation Sequencing (SYNE2) H D S Neurogenic scapuloperoneal syndrome, Kaeser type (DES) H D S Thyrotoxic periodic paralysis type 1 (CACNA1S) D S Neuromyotonia and axonal neuropathy, autosomal recessive (HINT1) D S Thyrotoxic periodic paralysis type 2 (KCNJ18) D S Neutral lipid storage disease with myopathy (PNPLA2) D S Tibial muscular dystrophy, tardive (LDB3) D S Nonaka myopathy (GNE) E D Tibial muscular dystrophy, tardive (TTN) D S Paramyotonia congenita of von Eulenburg (SCN4A) D S Ullrich congenital muscular dystrophy (COL6A1) D S Pompe disease (GAA) D S Ullrich congenital muscular dystrophy (COL6A2) D S Pontocerebellar hypoplasia type 6 (RARS2) D S Ullrich congenital muscular dystrophy (COL6A3) D S Potassium-aggravated myotonia (SCN4A) D S Walker-Warburg syndrome (FKRP) D S Rigid spine muscular dystrophy (SEPN1) D S Walker-Warburg syndrome (FKTN) H D S Rippling muscle disease (CAV3) D S Walker-Warburg syndrome (ISPD) S RYR1 Next Generation Sequencing (RYR1) 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 (NDUFA11) (DNM1L) D S Leigh syndrome (MTND3) D S Mitochondrial complex I deficiency (NDUFAF1) D S Leigh syndrome (BCS1L) D S Mitochondrial complex I deficiency (NDUFAF3) D S Leigh syndrome (NDUFAF6) D S Mitochondrial complex I deficiency (NDUFAF4) D S Leigh syndrome (COX15) D S Mitochondrial complex I deficiency (NDUFAF5) D S Leigh syndrome (FOXRED1) D S Mitochondrial complex I deficiency (NDUFB3) D S Leigh syndrome (NUBPL) D S Mitochondrial complex I deficiency (NDUFS1) D S Leigh syndrome (NDUFA10) D S Mitochondrial complex I deficiency (NDUFS2) D S Leigh syndrome (NDUFA2) D S Mitochondrial complex I deficiency (NDUFS4) D S Leigh syndrome (NDUFAF1) D S Mitochondrial complex I deficiency (NDUFS6) D S Leigh syndrome (NDUFAF2) D S Mitochondrial complex I deficiency (NDUFV1) D S Leigh syndrome (NDUFAF3) D S Mitochondrial complex I deficiency (NDUFV2) D S Leigh syndrome (NDUFA9) D S Mitochondrial complex II deficiency (SDHAF1) D S Leigh syndrome (NDUFA13) D S Mitochondrial complex III deficiency (BCS1L) D S Leigh syndrome (NDUFS3) D S Mitochondrial complex III deficiency (TTC19) D S Leigh syndrome (NDUFS4) D S Mitochondrial complex III deficiency (UQCRB) D S Leigh syndrome (NDUFS7) D S Mitochondrial complex III deficiency (UQCRC2) D S Leigh syndrome (NDUFS8) D S Mitochondrial complex III deficiency (UQCRQ) D S Leigh syndrome and mitochondrial encephalopathy (ACAD9) D S Mitochondrial complex IV deficiency (FASTKD2) D S Leigh syndrome due to COX deficiency (SURF1) D S Mitochondrial complex V (ATP synthase) deficiency (MT-ATP6) D S Leigh syndrome due to pyruvate carboxylase deficiency (PC) D S Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (ATPAF2) D S Leigh syndrome due to the mitochondrial complex IV deficiency (TACO1) D S Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70) D S Leigh syndrome, French-Canadian type (LRPPRC) D S Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (ATP5E) D S Leigh syndrome, X-linked (PDHA1) D S Mitochondrial DNA depletion syndrome (C10ORF2) E D MERRF syndrome (MT-TK) D S Mitochondrial DNA depletion syndrome (DGUOK) E MERRF, 2. level m8356, m8363, m8361 in MTTK, m611, m15967 in MTTP (MT-TP) D S Mitochondrial DNA depletion syndrome (RRM2B) D S Metachromatic leukodystrophy due to Saposin B deficiency (PSAP) D S Mitochondrial DNA depletion syndrome (SUCLA2) D S Mitochondrial complex I deficiency (FOXRED1) D S Mitochondrial DNA depletion syndrome (TK2) D S Mitochondrial complex I deficiency (NDUFA1) H D S Mitochondrial DNA depletion syndrome type 4A (POLG)

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Mitochondrial neurogastrointestinal encephalopathy syndrome without D S Mitochondrial DNA depletion syndrome type 6 (MPV17) D S leukoencephalopathy (TYMP) Mitochondrial DNA depletion syndrome, encephalomyopathic type with D S D S Mitochondrial respiratory chain disease, TIMM21-related (TIMM21) methylmalonic aciduria (SUCLG1) Progressive external ophthalmoplegia with mitochondrial deletions autosomal D S Mitochondrial encephalopathy (VDAC1) H S D recessive (POLG) Mitochondrial encephalopathy, progressive with proximal renal tubulopathy D S H S D Progressive external ophthalmoplegia with mitochondrial deletions type 1 (POLG) due to cytochrome c oxidase deficiency (COX10) D S Mitochondrial encephalomyopathy (MT-CYB) D S Progressive external ophthalmoplegia with mitochondrial deletions type 2 (SLC25A4)

Progressive external ophthalmoplegia with mitochondrial deletions type 3 D S Mitochondrial encephalomyopathy (MT-TL2) S D (C10ORF2) D S Mitochondrial encephalomyopathy (MFF) S D Progressive external ophthalmoplegia with mitochondrial deletions type 4 (POLG2)

Progressive mitochondrial myopathy with congenital cataract, hearing loss, D S S D Progressive external ophthalmoplegia with mitochondrial deletions type 5 (RRM2B) and developmental delay (GFER) Mitochondrial neurogastrointestinal encephalopathy syndrome without H D S leukoencephalopathy (POLG)

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 Epileptic encephalopathy, Lennox-Gastaut type (MAPK10) D S Autosomal dominant lateral temporal lobe epilepsy (LGI1) D S Epilepsy with neurodevelopmental defects (GRIN2A) D S Benign familial neonatal-infantile seizures (SCN2A) D S Familial focal epilepsy with variable foci (DEPDC5) D S Benign familial neonatal seizures (KCNQ2) D S Familial temporal lobe epilepsy type 5 (CPA6) D S Benign familial neonatal seizures (KCNQ3) D S Familial infantile myoclonic epilepsy (TBC1D24) D S Childhood absence epilepsy type 2 (GABRG2) D S Generalized epilepsy and paroxysmal dyskinesia (KCNMA1) D S Childhood absence epilepsy type 4 (GABRA1) D S Generalized epilepsy with febrile seizures plus type 1 (SCN1B) D S Childhood absence epilepsy type 5 (GABRB3) D S Generalized epilepsy with febrile seizures plus type 2 (SCN1A) D S Childhood absence epilepsy type 6 (CACNA1H) D S Generalized epilepsy with febrile seizures plus type 3 (GABRG2) D S Childhood absence epilepsy, JRK related (JRK) D S Generalized epilepsy with febrile seizures plus type 5 (GABRD) D S Cortical dysplasia-focal epilepsy syndrome (CNTNAP2) H D S Generalized epilepsy with febrile seizures plus type 7 (SCN9A) D S Dravet syndrome (GABRG2) H D S Glucose transporter type 1 deficiency syndrome (SLC2A1) D S Dravet syndrome (SCN2A) D S Hyperekplexia (GLRA1) H D S Dravet syndrome (SCN9A) D S Hyperekplexia (GLRB) D S Early infantile epileptic encephalopathy type 1 (ARX) D S Hyperekplexia (SLC6A5) D S Early infantile epileptic encephalopathy type 2 (CDKL5) D S Hyperekplexia (GPHN) D S Early infantile epileptic encephalopathy type 3 (SLC25A22) D S Hyperekplexia (ARHGEF9) D S Early infantile epileptic encephalopathy type 4 (STXBP1) D S Idiopathic generalized epilepsy type 10 (GABRD) D S Early infantile epileptic encephalopathy type 5 (SPTAN1) D S Idiopathic generalized epilepsy type 11 (CLCN2) D S Early infantile epileptic encephalopathy type 6 (SCN1A) H D S Idiopathic generalized epilepsy type 12 (SLC2A1) D S Early infantile epileptic encephalopathy type 7 (KCNQ2) D S Juvenile absence epilepsy type 1 (EFHC1) D S Early infantile epileptic encephalopathy type 8 (ARHGEF9) D S Kohlschutter Tonz syndrome (ROGDI) D S Early infantile epileptic encephalopathy type 9 (PCDH19) D S Myoclonic epilepsy of Lafora (EPM2A) D S Early infantile epileptic encephalopathy type 10 (PNKP) D S Myoclonic epilepsy of Lafora (NHLRC1) D S Early infantile epileptic encephalopathy type 11 (SCN2A) H D S Nocturnal frontal lobe epilepsy type 1 (CHRNA4) D S Early infantile epileptic encephalopathy type 12 (PLCB1) D S Nocturnal frontal lobe epilepsy type 3 (CHRNB2) D S Early infantile epileptic encephalopathy type 13 (SCN8A) D S Nocturnal frontal lobe epilepsy type 4 (CHRNA2) D S Epileptic encephalopathy (MAGI2) D S Nocturnal frontal lobe epilepsy type 5 (KCNT1)

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Paroxysmal exercise-induced dyskinesia with epilepsy and/orhemolytic anemia H D S S D Pyruvate carboxylase deficiency (PC) (SLC2A1) D S Polymicrogyria bilateral occipital (NR2E1) D S Rolandic epilepsy, mental retardation, and speech dyspraxia (SRPX2)

D S Progressive myoclonic epilepsy type 1A (PRICKLE1) D S SESAME syndrome (KCNJ10)

D S Progressive myoclonic epilepsy type 3 (KCTD7) D S Unverricht-Lundborg disease (CSTB)

D S Progressive myoclonic epilepsy type 4, with or without renal failure (SCARB2) D S X-linked epilepsy with learning disabilities and behavior disorders (SYN1)

D S Pyridoxine-dependent epilepsy (ALDH7A1)

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, 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) 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 (ECE1) D S Acyl-CoA peroxisomal oxidase deficiency (ACOX1) H D S Central hypoventilation syndrome, congenital (MECP2) Central hypoventilation syndrome with or without Hirschsprung disease D S Adrenoleukodystrophy/Adrenomyeloneuropathy (ABCD1) R S (PHOX2B) Cerebellar hypoplasia and mental retardation with or without quadrupedal D S Aicardi-Goutieres syndrome type 1 (TREX1) D S H locomotion type 1 (VLDLR) H D S Aicardi-Goutieres syndrome type 2 (RNASEH2B) D S Cerebrotendinous xanthomatosis (CYP27A1) H D S Aicardi-Goutieres syndrome type 3 (RNASEH2C) D S Chudley-McCullough syndrome (GPSM2) H D S Aicardi-Goutieres syndrome type 4 (RNASEH2A) D S Cortical dysplasia, complex, with other brain malformations (TUBB3) H D S Aicardi-Goutieres syndrome type 5 (SAMHD1) D S Cortical malformations, occipital (LAMC3) D S Aicardi-Goutieres syndrome type 7 (IFIH1) D S COACH syndrome (TMEM67) D S Alexander disease (GFAP) D S COACH syndrome (CC2D2A) D S Allan-Herndon-Dudley syndrome (SLC16A2) D S COACH syndrome (RPGRIP1L) D S Athabaskan brainstem dysgenesis syndrome (HOXA1) D S Cohen syndrome (VPS13B) D S Band-like calcification with simplified gyration and polymicrogyria (OCLN) D S Corpus callosum, agenesis of, with abnormal genitalia (ARX) Corpus callosum agenesis of with mental retardation ocular coloboma and D S Baraitser-Winter syndrome 1 (ACTB) D S micrognathia (IGBP1) D S Baraitser-Winter syndrome 2 (ACTG1) D S Cortical dysplasia with other brain malformations, type 5 (TUBB2A) D S Basal ganglia and cerebellar atrophy with hypomethylation [DYT4] (TUBB4A) D S Donnai-Barrow syndrome (LRP2) D S Basal ganglia calcification type 3 (SLC20A2) D S Encephalopathy acute necrotizing type 1 (RANBP2) D S Basal ganglia calcification type 4 (PDGFRB) H D S Encephalopathy neonatal severe (MECP2) D S Budd-Chiari syndrome (F5) D S Encephalopathy thiamine-responsive (SLC19A3) D S Budd-Chiari syndrome (JAK2) D S Encephalopathy with neuroserpin inclusion bodies (SERPINI1) H D S CADASIL (NOTCH3) D S Ethylmalonic encephalopathy (ETHE1) D S Canavan disease (ASPA) D S Fucosidosis (FUCA1) D S Central hypoventilation syndrome (ASCL1) D S Glycine encephalopathy (AMT) H D S Central hypoventilation syndrome, congenital (RET) D S Glycine encephalopathy (GCSH) D S Central hypoventilation syndrome, congenital (GDNF) H D S Glycosylation disorder type 1C (ALG6) D S Central hypoventilation syndrome, congenital (EDN3) D S Glycosylation disorder type 1E (DPM1) D S Central hypoventilation syndrome, congenital (BDNF) D S Glycosylation disorder type 1J (DPAGT1) D S Central hypoventilation syndrome, congenital (ASCL1) D S Glycosylation disorder type 1M (DOLK) D S Central hypoventilation syndrome, congenital (PHOX2A) D S Glycosylation disorde type 2A (MGAT2) D S Central hypoventilation syndrome, congenital (ZEB2) D S Glycosylation disorde type 2C (SLC35C1) D S Central hypoventilation syndrome, congenital (GFRA1) D S Glycosylation disorder type 2D (B4GALT1)

Page 9/12 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 V3 Oct2014

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

Page 10/12 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 V3 Oct2014

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

NGS Panels:

(GBA (8 mutations), CFTR (26 mut), HEXA (7mut), IKBKAP (2 mut), ASPA (4 mut), G6PC (2 mut) ABCC8 (2 mut), MCOLN1 (2 S Advanced Ashkenazi (Sanger) panel mut), 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 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, D S MED12,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 Intellectual disability nonsyndromic, CIC-related (CIC) D S Alacrima, achalasia and mental retardation syndrome (GMPPA) D S Jawad syndrome (RBBP8) D S Allan-Herndon-Dudley syndrome (SLC16A2) D S Jensen syndrome (TIMM8A) D S Alazami syndrome (LARP7) D S Kabuki syndrome type 1 (KMT2D) H D S Angelman-like syndrome (MECP2) D S Kabuki syndrome type 2 (KDM6A) D S Angelman-like syndrome (CDKL5) D S Kleefstra syndrome (EHMT1) H D S Arts syndrome (PRPS1) D S Koolen syndrome (KANSL1) D S Asperger syndrome susceptibility X-linked type 2 (NLGN3) D S Lesch-Nyhan syndrome (HPRT1) D S Attention deficit-hyperactivity disorder (DRD4) D S Lowe oculocerebrorenal syndrome (OCRL) D S Attention deficit-hyperactivity disorder (DRD5) D S Lujan-Fryns syndrome (MED12) D S Autism spectrum disorder (EN2) D S Major affective disorder (CUTL2) D S Autism, MBD1-related (MBD1) D S MASA syndrome (L1CAM) D S Autism, OR13H1-related (OR13H1) D S Martsolf syndrome (RAB3GAP2) D S Autism susceptibility, X-linked type 1 (NLGN3) D S Melnick-Needles syndrome (FLNA) D S Autism susceptibility, X-linked type 2 (NLGN4X) S Mental retardation (ATP8A2) H D S Autism susceptibility, X-linked type 3 (MECP2) D S Mental retardation non-syndromic (ELK1) D S Autism susceptibility, X-linked type 5 (RPL10) D S Mental retardation non-syndromic (KLF8) D S Autism susceptibility, x-linked type 17 (SHANK2) H D S Mental retardation non-syndromic (NXF5) D S Bainbridge-Ropers syndrome (ASXL3) D S Mental retardation non-syndromic (ZCCHC12) Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2 D S Borjeson-Forssman-Lehmann syndrome (PHF6) D S (WDR81) D S Brunner syndrome (MAOA) D S Mental retardation with hypotonic facies syndrome, X-linked (ATRX) Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Mental retardation and microcephaly with pontine and cerebellar hypoplasia D S D S (SNAP29) (CASK) D S Cerebrooculofacioskeletal syndrome type 1 (ERCC6) D S Mental retardation, autosomal recessive type 3 (CC2D1A) D S Cerebrooculofacioskeletal syndrome type 4 (ERCC1) D S Mental retardation, autosomal recessive type 5 (NSUN2) D S CHARGE syndrome (CHD7) D S Mental retardation, autosomal recessive type 15 (MAN1B1) D S CHIME syndrome (PIGL) D S Mental retardation, autosomal recessive type 39 (TTI2) D S CHILD syndrome (NSDHL) D S Mental retardation, autosomal dominant type 2 (DOCK8) D S CK syndrome (NSDHL) D S Mental retardation, autosomal dominant type 5 (SYNGAP1) D S Coffin-Lowry syndrome (RPS6KA3) D S Mental retardation, autosomal dominant type 6 (GRIN2B) H D S Coffin-Siris syndrome (SMARCE1) H D S Mental retardation, autosomal dominant type 9 (KIF1A) D S Cold-induced sweating syndrome type 2 (CLCF1) D S Mental retardation, autosomal dominant type 12 (ARID1B) D S Cold-induced sweating syndrome (CRLF1) D S Mental retardation, autosomal dominant type 13 (TRAPPC9) D S Costello syndrome (HRAS) D S Mental retardation, autosomal dominant type 14 (ARID1A) D S Craniofrontonasal syndrome (EFNB1) D S Mental retardation, autosomal dominant type 15 (SMARCB1) D S Creatine deficiency syndrome X-linked (SLC6A8) D S Mental retardation, autosomal dominant type 16 (SMARCA4) D S Danon disease (LAMP2) D S Mental retardation, autosomal dominant type 18 (MED23) D S Dent disease type 2 (OCRL) D S Mental retardation, autosomal dominant type 20 (MEF2C) D S DiGeorge syndrome (TBX1) D S Mental retardation, X-linked (RAB40AL) D S Dyslexia (PCDH11X) D S Mental retardation, X-linked type 3 (HCFC1) D S Dysmorphism, HMG20B-related (HMG20B) H D S Mental retardation, X-Linked type 13 (MECP2) D S FG syndrome type 1 (MED12) D S Mental retardation, X-linked type 14 (UPF3B) D S FG syndrome type 2 (FLNA) D S Mental retardation, X-linked type 15 (CUL4B) D S FG syndrome type 4 (CASK) D S Mental retardation, X-linked type 16 (FGD1) R S Fragile X tremor/ataxia syndrome (FMR1) D S Mental retardation, X-linked type 17 (HSD17B10) D S Frontometaphyseal dysplasia (FLNA) D S Mental retardation, X-linked type 19 (RPS6KA3) D S Heterotopia, periventricular, ED variant (FLNA) D S Mental retardation, X-linked type 21 (IL1RAPL1) D S Heterotopia, periventricular, X-linked dominant (FLNA) D S Mental retardation, X-linked type 29 (ARX) D S Hoyeraal-Hreidarsson syndrome (DKC1) D S Mental retardation, X-linked type 30 (PAK3) D S Hyperphosphatasia with mental retardation syndrome 2 (PIGO) D S Mental retardation, X-linked type 32 (CLIC2) H D S Insensitivity to pain, channelopathy-associated (SCN9A) D S Mental retardation, X-linked type 41 (GDI1) D S Intellectual disability nonsyndromic (CUX2) D S Mental retardation, X-linked type 44 (FTSJ1)

Page 11/12 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 V3 Oct2014

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

Page 12/12 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 V3 Oct2014