International Requisition Form

Home , List of diseases (0–9), List of diseases (G), List of diseases (H)

PleasePlease place place collection collection kit kit INTERNATIONAL barcode here. REQUISITION FORM barcode here. REQUISITION FORM 123456-2-X PLEASE COMPLETE ALL FIELDS. REQUISITION FORMS SUBMITTED WITH MISSING INFORMATION MAY CAUSE A DELAY IN TURNAROUND TIME OF THE TEST. PLEASE COMPLETE ALL FIELDS. REQUISITION FORMS SUBMITTED WITH MISSING INFORMATION MAY CAUSE A DELAY IN TURNAROUND TIME OF THE TEST. PATIENT INFORMATION ORDERING CLINICIAN INFORMATION PATIENT NAME (LAST, FIRST) NAME OF ORGANIZATION 1 Patient Information (Must be completed in English) 2 ORDERIng clinician (Must be completed in English) DATE OF BIRTH (MM/DD/YYYY) Organization (Clinic, Hospital, or Lab): Patient Name (Last, First): ADDRESS TELEPHONE

CITYPatient DOB (DD/MM/YYYY): STATE ZIP CODE ORDERINGLIMS-ID: CLINICIAN

TELEPHONE EMAIL Patient Street Address: Telephone:   I would like to receive emails about my test from Natera Y N City: Country: Ordering Clinician: PATIENT MALE OR FEMALE?  M-V26.34  F-V26.31 PATIENT PREGNANT?  Y-V22.1  N DATE OF SAMPLE COLLECTION (MM/DD/YY):______Telephone: Email: PAYMENT

PLEASEPatient CHECK male orONE: female:  M  F  BILL INSURANCE  BILL CLINIC  BILL CLINIC/CA Prenatal  SELF-PAY Patient pregnant? Program YPDC  N INSURANCE COMPANY (Please enclose a photocopy (front and CLINICIAN INFORMED CONSENT MEMBERDate of ID sample collectionSUBSCRIBER (DD/MM/YYYY): NAME (if different than patient) back) or all relevant insurance cards) If you would like the results of this case to be sent to an additional FAX fax number other than what is indicated on your setup form, please IF SELF-PAY, CHECK CARD TYPE:  VISA  MASTER CARD  AMEX  DISCOVER provide the fax number. NAME ON CARD CREDIT CARD NUMBER STATEMENT OF INFORMED CONSENT I confirm that this patient has been informed about the details including the risks, benefits and limitations of the 3 genetic test(s) ordered on this form, and has given consent for the testing as may be required under applicable law. CVV EXPIRATIONPAYMEN T(MM/YYYY) PATIENT SIGNATURE Physician/Authorized Signature ______Disposition or Retention of Samples  Bill Clinic  Self-Pay PATIENT ACKNOWLEDGEMENTLaboratory (Reseller) represents and confirms that the patient has given informed I confirmIf self thatpay, I have complete been informed the followingabout the details information: of the tests ordered for me by my provider including one or more of the following: Panoramaconsent prenatal in compliancescreen, Horizon genetic with carrierapplicable screen, or law Anora to products Natera’s of conception following test, includingsample their disposition (its) risks, benefits and limitations, and I voluntarily consent to testing. I understand I am financially responsible for services performed; including any copayments,or retention deductibles, policy: or other PATIENT amounts deeme UNDERSTANDSd ‘patient responsibility’ AND prior toCONSENTS test services being THAT: performed. (i) her/his I authorizeCheck Natera card or other type: provider to submit VISA claims to my MASTERCARD medical insurance on my behalf, AMEX if applicable,  with DISCOVER all benefits of ym plan made payablesample directly will to Natera be sentor other to provider. the UnitedNOTE: Patients States tested for pursuant performance to California’s Prenatalof the Screeningtest; (ii) Program Natera will not be billed for the ‘Panorama Prenatal Panel’ when 22q11.2 is opted out. may retain the patient’s leftover, de-identified samples to use for medical and Natera may keep my leftover de-identified samples for ongoing research and development. I and my heirs will not receive any payments, benefits, or rights to any resulting products or discoveries. If I do not want my de-identified sample used, I may send a requestName in writing on card: to Natera at Attn: Sample Retention, 201 Industrial Rd, Ste 410, San Carlos, CA 94070, or an email to [email protected] within 60 days advancement, after test results have research been issued & and development, my sample will be productdestroyed. NOTE:validation All samples and from quality patients residing in the state of New York will be destroyed within 60 days after the sample has been collected. assurance, independently or in collaboration with third-party partners, either in PatientCredit Signaturecard number:______or outside the United States; and (iii) patient and patient’s Date______heirs will not receive any payments, benefits, or rights to any resulting products or discoveries. If the patient does not want his or her de-identified sample used, the patient may send CCV: TEST ORDERING Expiration (DD/MM/YYYY): (SEE TEST DESCRIPTIONS SHEET FOR TEST EXPLANATIONS) a request in writing to the clinic or laboratory where the test was ordered within TM TM TM PANORAMA PRENATAL SCREEN HORIZON CARRIER60 days SCREEN after test results have beenANORA issued, andMISCARRIAGE such clinic or laboratory TEST will work Patient signature: PANORAMA PANEL OPTIONS: HORIZON PANEL OPTIONS:with Natera to destroy theANORA sample. OPTION:  PANORAMA PRENATAL PANEL 10 mL 10 mL Number of conditions screened for  ANORA MISCARRIAGE TEST 6 mL CODES FOR ALL PANELS: V77.6, V78.2, V77.7, V78.3, 783.9 Chromosomes 13, 18, 21, X and Y; Triploidy; 22q.11.2 deletion DATE OF PREGNANCY LOSS (MM/DD/YY): ______4 HorizonTM Test Ordering (SEE TEST DES4 (SMA,CRI PTCF, IONSFRAGILE S X,H EEDMD)T FOR TEST E10XPLA mL NATIONS)  I DO NOT WANT 22Q.11.2  27 (PAN-ETHNIC STANDARD) GESTATIONAL AGE AT LOSS (WEEKS): ______or  PANORAMA EXTENDED PANEL 10 mL 10 mL  106 (COMPREHENSIVE JEWISH) THIS PREGNANCY WAS:  PanoramaHORIZON Prenatal PANE PanelL O PTPLUSIONS 4 additional: microdeletions 137 (PAN-ETHNIC LARGE)  Family history of2mL intellectual SINGLETON disabilities  TWINS  TRIPLETS  OTHER  274 (PAN-ETHNIC EXTENDED) For any panel or CF  I WANT FETAL SEX REPORTED IF MULTIPLES:  IDENTICAL  NON-IDENTICAL  UNKNOWN Number of conditions screened for  ADD TAY-SACHS ENZYME  Familyor SMA history single optionsof other diseases of the musculoskeletal system and WAS AN EGG OR SURROGATE USED:  Y  N  4 (SMA, CF, Fragile X, DMD) (Available for Horizon 27, 106, 137,connective 274) tissue MATERNAL HEIGHT: ______FEET ______INCHES IF D&C, HOSPITAL OR SURGERY CENTER NAME: MATERNAL 27 (Pan-ethnic WEIGHT: Standard)______POUNDS SINGLE OPTIONS:  Family history of carrier ______of genetic disease 10 mL or 10 mL GESTATIONAL 106 (Comprehensive AGE:______Jewish)_ WEEKS ______DAYS If no panels are selected  Family history of other specified conditions   SAMPLE TYPE:  FRESH  PARAFFIN IS THIS A TWIN OR MULTIPLE GESTATION PREGNANCY?  Y  N CF-V77.6 SMA -V77.6, V78.2, V77.7, V78.3  137 (Pan-ethnic Large)  TAY-SACHS ENZYME -V77.6, V78.2, Encounter V77.7, V78.3for genetic counselingPlease submit a parental blood sample. If egg donor Patient must be at least 9 weeks gestational age  274 (Pan-ethnic Extended) (Saliva is not available for Enzyme; requires an additional tube when was used, please submit sample from biological father. ETHNICITY: DUE DATE (MM/DD/YY):______ordered with a panel) Both parental samples are needed for paraffin testing. WASSample AN EGG requirement DONOR OR for SURROGATE Horizon Panel USED? Options:  Y  N  Northern European (e.g. British, German, Irish) ETHNICITY: BLOOD SAMPLE COLLECTED IS 1THE 10mL MOTHER Lavender A KNOWN-top MICRODELETIONK2 EDTA blood CARRIER?tube  Y  N  Southern European (e.g. Italian, Mediterranean, Greek)  AFRICAN AMERICAN  MEDITERRANEAN FROM (NAME): ______WILL THE FATHER'S SAMPLE BE SUBMITTED WITH THIS CASE?  E ASIAN  SE ASIAN Ashkenazi Jewish  BIOLOGICAL MOTHER  BIOLOGICAL FATHER PLY E ASEN IFSE YES,LECT NAME:______ALL APPROPRIATE CL DOB:______INICAL INDICATIONS CAUCASIAN:  ASHKENAZI JEWISH  East Asian (e.g. Chinese, KorGESTATIONALean, Japanese) CARRIER Father’s Screening sample formust other be submittedmetabolic indisorders same kit  SEPHARDIC JEWISH  FRENCH CANADIAN  South Asian* (e.g. Indian, Pakistani)  Nonprocreative screening for genetic disease carrier status  HISPANIC/LATIN AMERICAN PLEASE SELECT ALL APPROPRIATE CLINICAL PLEASE CHECK ALL APPROPRIATE OTHER: ______ South-East Asian (e.g. Filipino,INDICATIONS: Vietnamese)  Other screening for genetic and chromosomal anomalies CLINICAL INDICATIONS: IS THE PATIENT CURRENTLY USING African or African American RECURRENT LOSS, NOT PREGNANT- 629.81  Screening for other disorder ADVANCED MATERNAL AGE, 1ST PREGNANCY-659.53 / V23.81 HORMONAL MEDICATIONS? Hispanic  LOSS WITH RETENTION AFTER 22 WKS - 656.40 ADVANCED Female for MATERNAL testing for AGE,genetic NOT disease 1ST PREGNANCY-659.63 carrier status for procreative / management Y-V22.1  N  UNSPECIFIED ABORTION WITHOUT MENTION OF  Middle Eastern* V23.82 Male for testing for genetic disease carrier status for procreative managementPLEASE SELECT ALL APPROPRIATE CLINICAL COMPLICATION - 637.90  Other/mixed Caucasian* ABNORMAL/POSITIVE Pregnant state, incidental SERUM SCREENING-796.5 INDICATIONS:  LOSS WITH RETENTION PRIOR TO 22 WKS - 632  ANEUPLOIDY IN MOTHER, FETAL ANEUPLOIDY-655.13  FAMILY HISTORY (GENETIC DISEASE)Is the patient -V18.9 currently using hormonal medications?  Supervision of normal 1st pregnancy, 1st trimester BLIGHTED OVUM [OTHER ABNORMAL POC] - 631.8  SUPERVISION OF HIGH-RISK PREGNANCY, ELDERLY  FAMILY HISTORY (OTHER)-V19.8 Y  N  KNOWN OR SUSPECTED CHROMOSOMAL ABNORMALITY  Supervision of normal 1st pregnancy, 2nd trimester  NO FAMILY HISTORY (SCREENING) PRIMIGRAVIDA-V23.81 * When these ethnicities areIN checked,FETUS -655.13 the residual risk for negative results  GENETIC COUNSELING -V26.33 SUPERVISION Supervision of OF other HIGH-RISK normal PREGNANCY,pregnancy, 1st ELDERLY trimester  OTHER KNOWN OR SUSPECTED FETAL  OTHER MYOPATHIES-359.89on the report will reflect a pan-ethnic residual risk number MULTIGRAVIDA-V23.82 Supervision of normal pregnancy, unspecified, 1st trimester  INBORN AND OTHER DISORDER OF ABNORMALITY, NEC - 655.83  OTHER SPECIFIED ANTENATAL SCREENING-V28.89 METABOLISM -642  UNSPECIFIED KNOWN OR SUSPECTED FETAL  PRIOR PREGNANCY WITH AN ANEUPLOIDY-V23.49  OTHER (ICD-9 CODE):______ABNORMALITY- 655.93  OTHER (ICD-9 CODE):______ OTHER (ICD-9 CODE): ______

MKT-00044 Rev 05_NATERA-UNIVERSAL-ReqForm (7_6_15)-UNIV4 NAT-801115 HORIZON TEST DESCRIPTIONS AND SAMPLE REQUIREMENTS

HORIZON is a carrier screen that screens individuals to determine if they are carriers for specific autosomal recessive and X-linked genetic conditions.

Horizon 4 Sample Requirements 1 10mL Lavender-top K2 EDTA blood tube

Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X Syndrome, Spinal Muscular Atrophy

Horizon 27 (Horizon 4+Conditions Below) Sample Requirements 1 10mL Lavender-top K2 EDTA blood tube Alpha-Thalassemia, Batten Disease (Neuronal Ceroid Lipofuscinosis, CLN3-Related), Beta-Hemoglobinopathies, Bloom Syndrome, Canavan Disease, Citrullinemia, Type I, Familial Dysautonomia, Fanconi Anemia, Group C, Galactosemia, Gaucher Disease, Glycogen Storage Disease, Type 1a, Isovaleric Acidemia, Medium Chain Acyl-CoA Dehydrogenase Deficiency, Methylmalonic Aciduria and Homocystinuria, Type cblC, Mucolipidosis, Type IV, Mucopolysaccharidosis, Type I (Hurler Syndrome), Niemann-Pick Disease, Types A/B, Polycystic Kidney Disease, Autosomal Recessive, Rhizomelic Chondrodysplasia Punctata, Type I, Smith-Lemli-Opitz Syndrome, Tay-Sachs Disease, Tyrosinemia, Type I, Zellweger Spectrum Disorders, PEX1-Related

Horizon 106 (Horizon 27+Conditions Below) Sample Requirements 1 10mL Lavender-top K2 EDTA blood tube

3-Phosphoglycerate Dehydrogenase Deficiency, Abetalipoproteinemia, Acute Infantile Liver Failure, Adrenoleukodystrophy, Alport Syndrome, COL4A3-Related, Asparagine Synthetase Deficiency, Ataxia-Telangiectasia, Autism Spectrum, Epilepsy and Arthrogryposis, Bardet-Biedl Syndrome, BBS2-Related, Carnitine Palmitoyltransferase II Deficiency, Cerebrotendinous Xanthomatosis, Choreoacanthocytosis, Chronic Granulomatous Disease, Cytochrome b-negative, Congenital Amegakaryocytic Thrombocytopenia, Congenital Disorder of Glycosylation, Type 1A, PMM2- Related, Congenital Insensivity to Pain with Anhidrosis (CIPA), Congenital Myasthenic Syndrome, RAPSN-Related, Corticosterone Methyloxidase Deficiency, Costeff Disease Optic Atrophy (3-Methylglutaconic Aciduria, Type III), Cystinosis, Deafness, Autosomal Recessive 77, Dyskeratosis Congenita, Ehlers-Danlos Syndrome, Type VIIC, Enhanced S-Cone Syndrome (Goldmann- Favre Syndrome), Factor XI Deficiency, Familial Hypercholesterolemia, LDLR-Related, Familial Hyperinsulinism, Familial Mediterranean Fever, Fanconi Anemia, Group A, Glycogen Storage Disease, Type 2 (Pompe Disease), Glycogen Storage Disease, Type III, Glycogen Storage Disease, Type IV, Glycogen Storage Disease, Type V (McArdle Disease), Glycogen Storage Disease, Type VII, Hereditary Spastic Paraparesis, Type 49, Hermansky-Pudlak Syndrome, HPS3-Related, Homocystinuria due to Deficiency of MTHFR, Inclusion Body Myopathy 2, Infantile Cerebral and Cerebellar Atrophy, Joubert Syndrome 2, Leber Congenital Amaurosis 2 (Retinitis Pigmentosa 20), Limb Girdle Muscular Dystrophy, Type 2B, Lipoamide Dehydrogenase Deficiency (Maple Syrup Urine Disease, Type III), Maple Syrup Urine Disease, Type 1B, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Metachromatic Leukodystrophy, ARSA-Related, Microphthalmia/ anophthalmia, Mitochondrial Complex 1 Deficiency, NDUFAF5-Related, Mitochondrial Complex 1 Deficiency, NDUFS6-Related, Mitochondrial Myopathy and Sideroblastic Anemia (MLAS1), Multiple Sulphatase Deficiency, Myoneurogastrointestinal Encephalopathy (MNGIE), Nemaline Myopathy, Non-syndromic Hearing Loss, Omenn Syndrome, Ornithine Aminotransferase Deficiency, Osteopetrosis, Infantile Malignant (Osteopetrosis, autosomal recessive), Phenylketonuria, Polyglandular Autoimmune Syndrome, Pontocerebellar Hypoplasia, Pontocerebellar Hypoplasia, Type 1A, Primary Ciliary Dyskinesia, DNAH5-Related, Primary Ciliary Dyskinesia, DNAI1-Related, Primary Ciliary Dyskinesia, DNAI2-Related, Primary Hyperoxaluria, Type 3, Progressive Cerebello-Cerebral Atrophy, Renal Tubular Acidosis and deafness, ATP6V1B1-Related, Retinitis Pigmentosa 25, Retinitis Pigmentosa 26, Retinitis Pigmentosa 28, Retinitis Pigmentosa 59, Usher Syndrome, Type 1F, Usher Syndrome, Type 2A, Usher Syndrome, Type 3, Walker-Warburg Syndrome, Wilson Disease, Wolman Disease, Zellweger Spectrum Disorders, PEX6-Related, Zellweger Spectrum Disorders, PEX2-Related

Horizon 137 (Horizon 27+Conditions Below) Sample Requirements 1 10mL Lavender-top K2 EDTA blood tube

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency, Abetalipoproteinemia, Achondrogenesis, Type 1B (Diastrophic Dysplasia), Adrenoleukodystrophy, Alpha-Mannosidosis, Alport Syndrome, COL4A3-Related, Andermann Syndrome (Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum), Argininosuccinate Lyase Deficiency, Aspartylglycosaminuria, Ataxia With Vitamin E Deficiency, Ataxia-Telangiectasia, Autism Spectrum, Epilepsy and Arthrogryposis, Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, Bardet-Biedl Syndrome, BBS10-Related, Bardet-Biedl Syndrome, BBS1-Related, Bardet-Biedl Syndrome, BBS2-Related, Biotinidase Deficiency, Carnitine Deficiency, Carnitine Palmitoyltransferase IA Deficiency, Carnitine Palmitoyltransferase II Deficiency, Cartilage-Hair Hypoplasia, Cerebrotendinous Xanthomatosis, Chronic Granulomatous Disease, X-linked, Citrin Deficiency, Combined Pituitary Hormone Deficiency-2, Congenital Amegakaryocytic Thrombocytopenia, Congenital Disorder of Glycosylation, Type 1A, PMM2-Related, Congenital Disorder of Glycosylation, Type IB, Congenital Finnish Nephrosis, Congenital Myasthenic Syndrome, CHRNE-Related, Congenital Myasthenic Syndrome, RAPSN-Related, Cystinosis, D-Bifunctional Protein Deficiency, Dyskeratosis Congenita, Ehlers-Danlos Syndrome, Type VIIC, Ethylmalonic Encephalopathy, Familial Hyperinsulinism, Fumarase Deficiency, Glutaryl-CoA Dehydrogenase Deficiency (Glutaric Acidemia, Type 1), Glycine Encephalopathy, Glycine Encephalopathy, AMT-Related, Glycogen Storage Disease, Type 2 (Pompe Disease), Glycogen Storage Disease, Type IB, Glycogen Storage Disease, Type III, GRACILE Syndrome (Mitochondrial Respiratory Chain Complex III Deficiency), Hereditary Fructose Intolerance, Hermansky-Pudlak Syndrome, HPS3-Related, Homocystinuria, Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome), Hypophosphatasia, Autosomal Recessive, Inclusion Body Myopathy 2, Joubert Syndrome 2, Krabbe Disease, Lamellar Ichthyosis, Type 1, Leigh Syndrome, French-Canadian Type, Leukoencephalopathy with Vanishing White Matter, Limb Girdle Muscular Dystrophy, Type 2A, Limb-Girdle Muscular Dystrophy, Type 2C, Limb-Girdle Muscular Dystrophy, Type 2D, Limb-Girdle Muscular Dystrophy, Type 2E, Lipoamide Dehydrogenase Deficiency (Maple Syrup Urine Disease, Type III), Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Lysinuric Protein Intolerance, Maple Syrup Urine Disease, Type 1A, Maple Syrup Urine Disease, Type 1B, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Metachromatic Leukodystrophy, ARSA-Related, Mucolipidosis II/IIIA, Mucopolysaccharidisis, Type IIIA (Sanfilippo A), Mucopolysaccharidosis, Type IVB (GM1 Gangliosidosis), Multiple Sulphatase Deficiency, Muscle-Eye-Brain Disease, POMGNT1-Related (Muscular dystrophy-dystroglycanopathy, Type C), Nemaline Myopathy, Neuronal Ceroid Lipofuscinosis, CLN5-Related, Neuronal Ceroid Lipofuscinosis, PPT1-Related, Neuronal Ceroid Lipofuscinosis, TPP1-Related, Neuronal Ceroid- Lipofuscinosis, CLN6-Related, Neuronal Ceroid-Lipofuscinosis, CLN8-Related, Niemann Pick Disease, Type C1/D, Nijmegen Breakage Syndrome, Non-syndromic Hearing Loss, Ornithine Transcarbamylase Deficiency, Pendred Syndrome, Phenylketonuria, Primary Hyperoxaluria, Type 1, Primary Hyperoxaluria, Type 2, Propionic Acidemia, alpha subunit, Propionic Acidemia, beta subunit, Pycnodysostosis, Retinitis Pigmentosa 59, Salla Disease, Sandhoff Disease, Segawa Syndrome, Autosomal Recessive, Severe Combined Immunodeficiency (Adenosine Deaminase Deficiency), Severe Combined Immunodeficiency, Type Athabaskan, Sjogren-Larsson Syndrome, Steroid-Resistant Nephrotic Syndrome, Usher Syndrome, Type 1B, Usher Syndrome, Type 1C, Usher Syndrome, Type 1D, Usher Syndrome, Type 1F, Usher Syndrome, Type 2A, Usher Syndrome, Type 3, Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Walker-Warburg Syndrome, Wilson Disease, Zellweger Spectrum Disorders, PEX2-Related, X-linked Severe Combined Immunodeficiency

Horizon 274 (Horizon 137+ Conditions Below) Sample Requirements 1 10mL Lavender-top K2 EDTA blood tube

3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency, 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency, 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency, Achromatopsia, Acrodermatitis Enteropathica, Acute Infantile Liver Failure, Acyl-CoA Oxidase I Deficiency, Aicardi-Goutières Syndrome, Alpha Thalassemia and Mental Retardation, Alport Syndrome, COL4A4-Related, Alport Syndrome, X-linked, Alstrom Syndrome (Early Onset Myocardial Infarction, Association with Leber Congenital Amaurosis, Diabetes Type 1), Aromatase Deficiency, Asparagine Synthetase Deficiency, Bardet-Biedl Syndrome, BBS12-Related, Bare Lymphocyte Syndrome, Type II, Bartter Syndrome, Bilateral Frontoparietal Polymicrogyria, Carbamoyl Phosphate Synthetase I Deficiency, Carpenter Syndrome, Charcot-Marie-Tooth Disease with Deafness, X-linked, Charcot-Marie-Tooth Disease, Type 4D, Choreoacanthocytosis, Choroideremia, Chronic Granulomatous Disease, Cytochrome b-negative, Ciliopathies, RPGRIP1L-Related, Cohen Syndrome, Combined Malonic and Methylmalonic Aciduria, Combined Oxidative Phosphorylation Deficiency (Complex 4 Deficiency), Combined Oxidative Phosphorylation Deficiency 3, Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency, Congenital Disorder of Glycosylation, Type 1C, Congenital Insensivity to Pain with Anhidrosis (CIPA), Congenital Neutropenia, HAX1-Related, Congenital Neutropenia, VPS45-Related, Corneal Dystrophy and Perceptive Deafness, Corticosterone Methyloxidase Deficiency, Costeff Disease Optic Atrophy (3-Methylglutaconic Aciduria, Type III), CRB1-Related Retinal Dystrophies, Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1), Deafness, Autosomal Recessive 77, Dytrophic Epidermolysis Bullosa, Autosomal Recessive, Ellis-van Creveld syndome (Weyers Acrofacial Dysostosis), Emery-Dreifuss Muscular Dystrophy 1, X-linked, Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome), Fabry Disease, Factor IX Deficiency, Factor XI Deficiency, Familial Hypercholesterolemia, LDLRAP1-Related, Familial Hypercholesterolemia, LDLR-Related, Familial Mediterranean Fever, Familial Neuropophyseal Diabetes Insipidus, Autosomal Recessive, Fanconi Anemia, Group A, Fanconi Anemia, Group G, Galactokinase Deficiency (Galactosemia, Type II), Gitelman Syndrome, Glutaric Acidemia, Type IIA, Glutaric Acidemia, Type IIC, Glycogen Storage Disease, Type IV, Glycogen Storage Disease, Type V (McArdle Disease), Glycogen Storage Disease, Type VII, Guanidinoacetate Methyltransferase Deficiency , Hemochromatosis, Type 2A, Hemochromatosis, Type 3, TFR2-Related, Hereditary Spastic Paraparesis, Type 49, Hermansky-Pudlak Syndrome, HPS1-Related, Holocarboxylase Synthetase Deficiency, Homocystinuria due to Deficiency of MTHFR, Homocystinuria, Type cblE , Hydrolethalus Syndrome, Hyperinsulinemic Hypoglycemia, Hypohidrotic Ectodermal Dysplasia, X-linked, Infantile Cerebral and Cerebellar Atrophy, Ketothiolase Deficiency, Leber Congenital Amaurosis, Leber Congenital Amaurosis 2 (Retinitis Pigmentosa 20), Leber Congenital Amaurosis, Type CEP290, Leber Congenital Amaurosis, Type RDH12, Lethal Congenital Contracture Syndrome 1 (Lethal Arthrogryposis with Anterior Horn Cell Disease), Limb Girdle Muscular Dystrophy, Type 2B, Limb Girdle Muscular Dystrophy, Type 2I, Lipoid Adrenal Hyperplasia, Lipoprotein Lipase Deficiency, Meckel-Gruber Syndrome, Type 1, Metachromatic Leukodystrophy (Gaucher Disease, atypical), Methylmalonic Aciduria and Homocystinuria, Type cblD, Methylmalonic Aciduria, MMAA-Related, Methylmalonic Aciduria, MMAB-Related, Methylmalonic Aciduria, Type mut(0), Microphthalmia/anophthalmia, Mitochondrial Complex 1 Deficiency, NDUFAF5-Related, Mitochondrial Complex 1 Deficiency, NDUFS6-Related, Mitochondrial DNA Depletion Syndrome 6 (Hepatocerebral Type), Mitochondrial Myopathy and Sideroblastic Anemia (MLAS1), Mucolipidosis III gamma, Mucopolysaccharidosis Type IX, Mucopolysaccharidosis, Type II (Hunter Syndrome), Mucopolysaccharidosis, Type IIIB (Sanfilippo B), Mucopolysaccharidosis, Type IIIC (Sanfilippo C), Mucopolysaccharidosis, Type IIID, Mucopolysaccharidosis, Type VI (Maroteaux-Lamy), Myoneurogastrointestinal Encephalopathy (MNGIE), Myotubular Myopathy, X-linked, N-acetylglutamate Synthase Deficiency, Neuronal Ceroid Lipofuscinosis, MFSD8-Related, Niemann Pick Disease, Type C2, Occipital Horn Syndrome (Motor neuropathy distal), Odonto- onycho-dermal Dysplasia (Schopf-Schulz-Passarge Syndrome), Omenn Syndrome, Ornithine Aminotransferase Deficiency, Osteopetrosis, Infantile Malignant (Osteopetrosis, autosomal recessive), Pituitary Hormone Deficiency, Combined 3, Polyglandular Autoimmune Syndrome, Pontocerebellar Hypoplasia, Pontocerebellar Hypoplasia, Type 1A, Primary Ciliary Dyskinesia, DNAH5-Related, Primary Ciliary Dyskinesia, DNAI1-Related, Primary Ciliary Dyskinesia, DNAI2-Related, Primary Hyperoxaluria, Type 3, Progressive Cerebello-Cerebral Atrophy, Progressive Familial Intrahepatic Cholestasis, Type 2, Pyruvate Dehydrogenase Deficiency, Autosomal Recessive, Pyruvate Dehydrogenase Deficiency, X-Linked, Renal Tubular Acidosis and deafness, ATP6V1B1-Related, Retinitis Pigmentosa 25, Retinitis Pigmentosa 26, Retinitis Pigmentosa 28, Rhizomelic Chondrodysplasia Punctata, Type 3 (Akyl-DHAP Synthase Deficiency), Riboflavin Responsive Complex 1 Deficiency (Acyl-CoEnzyme Dehydrogenase 9 Deficiency), Roberts Syndrome, Schimke Immunoosseous Dysplasia, Spondylothoracic Dysostosis, Stuve-Wiedemann Syndrome, Wolman Disease, X-Linked Juvenile Retinoschisis, Zellweger Spectrum Disorders, PEX6-Related, Zellweger Spectrum Disorders, PEX10-Related

HORIZON NOTES: When SMA and/or Fragile X is ordered, enhanced SMA (2+0) and AGG reflex, respectively, are/is automatically included. Males are not screened for X-linked conditions.

MKT-10021 Rev 03 HorizonReqInt-V1(12_9_15)_HZInt NAT_801185 PATIENT CONSENT FORM HorizonTM Carrier Screening

Please have patient sign and retain in patient’s medical chart.

Purpose: The purpose of this carrier screening test is to find out if you are a carrier of any of the specific genetic pathogenic (disease- causing) variants tested for in this screening panel. Being a carrier puts one at increased risk to have a child affected with a specific genetic disease. The enclosed genetic disease table on page 3 lists all of the genetic diseases available on this carrier screening panel – the full panel or a subset of diseases may be screened depending on what your provider orders on the Natera Horizon referral form. For descriptions of each disease, please visit www.horizonscreen.com/diseases.

Methods & Test Results: A blood or saliva sample is required for Natera Horizon carrier screening. Positive results: A positive result identifies a person who is a carrier for a specific genetic disease. Your partner must be a carrier for the same disease for you to be at risk for having an affected child, with the exception of the X-linked disorders. See below for more information on X-linked disorders. In the case of a positive result, comprehensive genetic counseling through a local clinical geneticist or genetic counselor is recommended to discuss the implications of your test results and possible associated reproductive risks. This test has the ability to identify people who may actually be affected with, and not just carriers of, the genetic conditions being tested, in which case further medical evaluation by a clinical geneticist or other physician specialists should be considered. Negative results: A negative result means a person has a significantly reduced chance to carry a pathogenic variant tested for on the panel of disease genes reported by Natera. Please visit www.horizonscreen.com/diseases for a list of diseases. A negative result on this carrier screen reduces the risk but does not completely rule out the chance for you to be a carrier. Carrier risks before and after testing are based on the assumption that you do not have symptoms, or a family history, of any of the screened diseases. If you DO have a family history of a specific genetic disease, you may have a higher chance to be a carrier. If you have a family history of a genetic condition, genetic counseling is recommended to discuss your specific carrier risks and the appropriate carrier screening panel given your family history.

Testing for X-linked Disorders: Some disorders on the Horizon carrier screening panels have X-linked inheritance, including Fragile X syndrome and Duchenne Muscular Dystrophy. Carrier screening for X-linked disorders is offered only to women, as only female carriers are at risk to have children affected with an X-linked disorder.

Further Information about Carrier Screening and Results: You have the option to make an appointment for a phone consultation with a Natera genetic counselor. Phone consultations can be performed prior to having your blood drawn and/or after testing to discuss results. This consultation can be arranged by calling 1-877-476-4743.

Confidential Reporting Practices: Natera complies with HIPAA privacy laws. Test results will be reported only through the ordering health care provider(s) or genetic counselor (where allowed). Additionally the test results could be released to those who, by law, may have access to such data.

Limitations: Occasionally, a blood or saliva sample does not generate results, and an additional blood or saliva sample may be requested. Inaccurate test results may occur due to sample mix-up, technical problems, and other unforeseen problems.

Financial Responsibility: If test cancellations are received prior to test set-up, there is no charge for testing. When requests for test cancellation are received after set-up, a cancellation report will be generated and a set-up fee will be charged. Once testing is initiated, cancellation is not possible. You are responsible for all charges for testing and will be contacted for payment in the event your health plan does not reimburse for the test or Natera does not receive a response from your health plan.

Page 1 Consent for Retaining Samples: Natera is committed to the continual monitoring and improvement in our testing platforms; thus we may retain your remaining de-identified sample for this purpose. Although future research using the de-identified samples may lead to development of new products, it will be impossible to know if your sample was used because samples will be stripped of all identifiers and you and your heirs will not receive any payments or benefits from or rights to new products or discoveries. If you DO NOT want any remaining sample to be retained and used for these purposes, you may send a signed request in writing to Natera within 60 days after carrier results have been issued, in which case your sample will be destroyed. Please send this request in writing to:

Natera, Attention: Sample Retention Industrial Rd., Ste 410, San Carlos, CA 94070

Note: All samples from patients residing in the state of New York will be destroyed within 60 days after carrier results have been issued and a written request is not needed.

I have read or have had read to me all of the above statements along with the separate genetic disease information sheet. I understand the information regarding Natera Horizon carrier screening. I have had the opportunity to ask questions of my health care provider about the testing, the procedure, the risks, and the alternatives prior to my informed consent.

______I request and authorize Natera to test my sample for the genetic conditions requested on the referral form by my health care provider.

______Patient Signature Date

______Printed Name

______Witness Date

Page 2 3-Beta-Hydroxysteroid 3-Hydroxy-3-Methylglutaryl-CoA 3-Methylcrotonyl-CoA Carboxylase 3-Methylcrotonyl-CoA Carboxylase Dehydrogenase Type II Deficiency Lyase Deficiency (HMGCL) 1 Deficiency (MCCC1) 2 Deficiency (MCCC2) (HSD3B2) 3-Phosphoglycerate Dehydrogenase 6-Pyruvoyl-Tetrahydropterin Abetalipoproteinemia (MTTP) Achondrogenesis, Deficiency (PHGDH) Synthetase Deficiency (PTS) Type 1B(SLC26A2) Achromatopsia (CNGB3) Acrodermatitis Enteropathica Acute Infantile Liver Failure (TRMU) Acyl-CoA Oxidase I Deficiency (SLC39A4) (ACOX1) Adrenoleukodystrophy, X-linked Aicardi-Goutières Syndrome Alpha-Mannosidosis (MAN2B1) Alpha-Thalassemia (HBA1/HBA2) (ABCD1) (SAMHD1) Alpha Thalassemia Intellectual Alport Syndrome, COL4A3-Related Alport Syndrome, COL4A4-Related Alport Syndrome, X-linked (COL4A5) Disability Syndrome (COL4A3) (COL4A4) Alstrom Syndrome (ALMS1) Andermann Syndrome Argininosuccinate Lyase Deficiency Aromatase Deficiency (SLC12A6) (ASL ) (CYP19A1) Asparagine Synthetase Deficiency Aspartylglycosaminuria (AGA) Ataxia With Vitamin E Deficiency Ataxia-Telangiectasia (ATM) (ASNS) (TTPA) Autism Spectrum, Epilepsy and Autosomal Recessive Spastic Ataxia Bardet-Biedl Syndrome, Bardet-Biedl Syndrome, Arthrogryposis (SLC35A3) of Charlevoix-Saguenay (SACS) BBS1-Related (BBS1) BBS2-Related (BBS2) Bardet-Biedl Syndrome, BBS10- Bardet-Biedl Syndrome, Bare Lymphocyte Syndrome, Type II Bartter Syndrome Related (BBS10) BBS12-Related (BBS12) (CIITA) (BSND) Batten Disease (CLN3) Beta-Hemoglobinopathies (HBB) Bilateral Frontoparietal Biotinidase Deficiency (BTD) Polymicrogyria (GPR56) Bloom Syndrome (BLM) Canavan Disease (ASPA) Carbamoylphosphate Synthetase I Carnitine Deficiency (SLC22A5) Deficiency (CPS1) Carnitine Palmitoyltransferase IA Carnitine Palmitoyltransferase II Carpenter Syndrome (RAB23) Cartilage-Hair Hypoplasia (RMRP) Deficiency (CPT1A) Deficiency (CPT2) Cerebrotendinous Xanthomatosis Charcot-Marie-Tooth Disease with Charcot-Marie-Tooth Disease, Choreoacanthocytosis (VPS13A ) (CYP27A1) Deafness, X-linked (GJB1) Type 4D (NDRG1) Choroideremia (CHM) Chronic Granulomatous Disease, Chronic Granulomatous Disease, Ciliopathies, RPGRIP1L-Related Cytochrome b-negative (CYBA) X-linked (CYBB) (RPGRIP1L) Citrin Deficiency (SLC25A13) Citrullinemia, Type I (ASS1) Cohen Syndrome (VPS13B) Combined Malonic and Methylmalonic Aciduria (ACSF3) Combined Oxidative Combined Oxidative Combined Pituitary Hormone Congenital Adrenal Hyperplasia due Phosphorylation Deficiency 1 (GFM1) Phosphorylation Deficiency 3 (TSFM) Deficiency 2 (PROP1) to 17-Alpha-Hydroxylase Deficiency (CYP17A1) Congenital Amegakaryocytic Congenital Disorder of Glycosylation, Congenital Disorder of Glycosylation, Congenital Disorder of Glycosylation, Thrombocytopenia (MPL) Type IA (PMM2) Type 1B (MPI) Type 1C (ALG6) Congenital Finnish Nephrosis Congenital Insensitivity to Pain with Congenital Myasthenic Syndrome Congenital Myasthenic Syndrome (NPHS1) Anhidrosis (NTRK1) (CHRNE-Related) (CHRNE) (RAPSN-Related) (RAPSN) Congenital Neutropenia, HAX1- Congenital Neutropenia, Corneal Dystrophy and Perceptive tCorticosterone Methyloxidase Related (HAX1) VPS45-Related (VPS45) Deafness (SLC4A11) Deficiency (CYP11B2) Costeff Disease (OPA3) CRB1-Related Retinal Dystrophies Creatine Transporter Defect 1 Cystic Fibrosis (CFTR) (CRB1) (SLC6A8) Cystinosis (CTNS) D-Bifunctional Protein Deficiency Deafness, Autosomal Recessive 77 Duchenne/Becker Muscular (HSD17B4) (LOXHD1) Dystrophy (DMD) Dyskeratosis Congenita (RTEL1) Dystrophic Epidermolysis Bullosa Ehlers-Danlos Syndrome, Type VIIC Ellis-van Creveld Syndrome (EVC) (COL7A1) (ADAMTS2) Emery-Dreifuss Myopathy 1 (EMD) Enhanced S-Cone Syndrome Ethylmalonic Encephalopathy Fabry Disease (GLA) (NR2E3) (ETHE1)

Page 3 Factor IX Deficiency (F9) Factor XI Deficiency (F11) Familial Dysautonomia (IKBKAP) Familial Hypercholesterolemia, LDLR-Related (LDLR) Familial Hypercholesterolemia, Familial Hyperinsulinism (ABCC8) Familial Mediterranean Fever (MEFV) Familial Neuropophyseal Diabetes LDLDRAP1-Related (LDLRAP1) Insipidus, Autosomal Recessive (AQP2) Fanconi Anemia, Group A (FANCA) Fanconi Anemia, Group C (FANCC) Fanconi Anemia, Group G (FANCG) Fragile X Syndrome (FMR1) Fumarase Deficiency (FH) Galactokinase Deficiency (GALK1) Galactosemia (GALT) Gaucher Disease (GBA) Gitelman Syndrome (SLC12A3) Glutaric Acidemia, Type 2A Glutaric Acidemia, Type 2C Glutyl-CoA Dehydrogenase Deficiency (GCDH) Glycine Encephalopathy, AMT- Glycine Encephalopathy, GLDC- Glycogen Storage Disease, Type 1A Glycogen Storage Disease, Type 1B Related (AMT) Related (GLDC) (G6PC) (SLC37A4) Glycogen Storage Disease, Type 2 Glycogen Storage Disease, Type 3 Glycogen Storage Disease, Type 4 Glycogen Storage Disease, Type 5 (GAA) (AGL) (GBE1) (PYGM) Glycogen Storage Disease, Type 7 GRACILE Syndrome and Other Guanidinoacetate Methyltransferase Hemochromatosis, Type 2A (PFKM) BCS1L-Related Disorders (BCS1L) Deficiency (GAMT) (HFE2) Hemochromatosis, Type 3 Hereditary Fructose Intolerance Hereditary Spastic Paraparesis 49 Hermansky-Pudlak Syndrome, (TFR2) (ALDOB) (TECPR2) HPS1-Related (HPS1) Hermansky-Pudlak Syndrome, Holocarboxylase Synthetase Homocystinuria (CBS-Related) Homocystinuria due to MTHFR HPS3-Related (HPS3) Deficiency (HLCS) (CBS) Deficiency (MTHFR) Homocystinuria, cblE Type Hydrolethalus Syndrome Hyperinsulinemic Hypoglycemia Hyperornithinemia- (MTRR) (HYLS1) (KCNJ11) Hyperammonemia-Homocitrullinuria Syndrome (SLC25A15) Hypohidrotic Ectodermal Dysplasia, Hypophosphatasia, Autosomal Inclusion Body Myopathy 2 (GNE) Infantile Cerebral and Cerebellar X-Linked (EDA) Recessive (ALPL) Atrophy (MED17) Isovaleric Acidemia (IVD) Joubert Syndrome 2 (TMEM216) Ketothiolase Deficiency (ACAT1) Krabbe Disease (GALC) Lamellar Ichthyosis, Type 1 (TGM1) Leber Congenital Amaurosis, LCA5- Leber Congenital Amaurosis 2 Leber Congenital Amaurosis, Related( LCA5) (RPE65) Type CEP290 (CEP290) Leber Congenital Amaurosis Leigh Syndrome, French-Canadian Lethal Congenital Contracture Leukoencephalopathy with Type RHD12 (RDH12) Type (LRPPRC) Syndrome 1 (GLE1) Vanishing White Matter (EIF2B5) Limb Girdle Muscular Dystrophy, Limb Girdle Muscular Dystrophy, Limb Girdle Muscular Dystrophy, Limb Girdle Muscular Dystrophy, Type 2A (CAPN3) Type 2B (DYSF) Type 2C (SCGC) Type 2D (SGCA) Limb Girdle Muscular Dystrophy, Limb Girdle Muscular Dystrophy, Lipoamide Dehydrogenase Lipoid Adrenal Hyperplasia (STAR) Type 2E (SGCB) Type 2I (FKRP) Deficiency (DLD) Lipoprotein Lipase Deficiency (LPL) Long Chain 3-Hydroxyacyl-CoA Lysinuric Protein Intolerance Maple Syrup Urine Disease, Dehydrogenase Deficiency (HADHA) (SLC7A7) Type 1A (BCKDHA) Maple Syrup Urine Disease, Type 1B Meckel Gruber Syndrome, Type 1 Medium Chain Acyl-CoA Megalencephalic (BCKDHB) (MKS1) Dehydrogenase Deficiency (ACADM) Leukoencephalopathy With Subcortical Cysts (MLC1) Metachromatic Leukodystrophy, Metachromatic Leukodystrophy, Methylmalonic Aciduria and Methylmalonic Aciduria and PSAP-Related (PSAP) ARSA-Related (ARSA) Homocystinuria, Type cblC Homocystinuria, Type cblD (MMACHC) (MMADHC) Methylmalonic Aciduria, MMAA- Methylmalonic Aciduria, MMAB- Methylmalonic Aciduria, MUT- Microphthalmia / Anophthalmia Related (MMAA) Related (MMAB) Related (MUT) (VSX2) Mitochondrial Complex 1 Deficiency, Mitochondrial Complex 1 Deficiency, Mitochondrial DNA Depletion Mitochondrial Myopathy and NDUFAF5-Related (NDUFAF5) NDUFS6-Related (NDUFS6) Syndrome 6 (MPV17) Sideroblastic Anemia (PUS1) Mucolipidosis II/IIIA (GNPTAB) Mucolipidosis III Gamma (GNPTG) Mucolipidosis, Type IV (MCOLN1) Mucopolysaccharidosis, Type I (IDUA) Mucopolysaccharidosis, Type II Mucopolysaccharidosis, Type IIIA Mucopolysaccharidosis, Type IIIB Mucopolysaccharidosis, Type IIIC (IDS) (SGSH) (NAGLU) (HGSNAT)

Page 4 Mucopolysaccharidosis, Type IIID Mucopolysaccharidosis, Type IVB Mucopolysaccharidosis, Type VI Mucopolysaccharidosis, Type IX (GNS) (GLB1) (ARSB) (HYAL1) Multiple Sulfatase Deficiency Muscle-Eye-Brain Disease, Myoneurogastrointestinal Myotubular Myopathy, X-Linked (SUMF1) POMGNT1-Related (POMGNT1) Encephalopathy (TYMP1) (MTM1) N-Acetylglutamate Synthase Nemaline Myopathy (NEB) Neuronal Ceroid-Lipofuscinosis, Neuronal Ceroid-Lipofuscinosis, Deficiency (NAGS) CLN5-Related (CLN5) CLN6-Related (CLN6) Neuronal Ceroid-Lipofuscinosis, Neuronal Ceroid-Lipofuscinosis, Neuronal Ceroid-Lipofuscinosis, Neuronal Ceroid-Lipofuscinosis, CLN8-Related (CLN8) MFSD8-Related (MFSD8) PPT1-Related (PPT1) TPP1-Related (TPP1) Niemann-Pick Disease, Type A/B Niemann-Pick Disease, Type C1/D Niemann-Pick Disease, Type C2 Nijmegen Breakage Syndrome (SMPD1) (NPC1) (NPC2) (NBN) Non-Syndromic Hearing Loss, Occipital Horn Syndrome (APT7A) Odonto-Onycho-Dermal Dysplasia Omenn Syndrome (RAG2) GJB2-Related (GJB2) (WNT10A) Ornithine Aminotransferase Ornithine Transcarbomylase Osteopetrosis, Infantile Malignant Pendred Syndrome (SLC26A4) Deficiency (OAT) Deficiency (OTC) (TCIRG1) Phenylketonuria (PAH) Pituitary Hormone Deficiency, Polycystic Kidney Disease, Polyglandular Autoimmune Combined 3 (LHX3) Autosomal Recessive (PKHD1) Syndrome (AIRE) Pontocerebellar Hypoplasia, RARS2- Pontocerebellar Hypoplasia, Type 1A Primary Ciliary Dyskinesia, DNAH5- Primary Ciliary Dyskinesia, DNAH1- Related (RARS2) (VRK1) Related (DNAH5) Related (DNAH1) Primary Ciliary Dyskinesia, DNAI2- Primary Hyperoxaluria, Type 1 Primary Hyperoxaluria, Type 2 Primary Hyperoxaluria, Type 3 Related (DNAI2) (AGXT) (GRHPR) (HOGA1) Progressive Cerebello-Cerebral Progressive Familial Intrahepatic Propionic Acidemia, alpha subunit Propionic Acidemia, beta subunit Atrophy (SEPSECS) Cholestasis, Type 2 (ABCB11) (PCCA) (PCCB) Pycnodysostosis Pyruvate Dehydrogenase Deficiency, Pyruvate Dehydrogenase Deficiency, Renal Tubular Acidosis and (CTSK) Autosomal Recessive (PDHB) X-Linked (PDHA1) Deafness (ATP6V1B1) Retinitis Pigmentosa 25 (EYS) Retinitis Pigmentosa 26 (CERKL) Retinitis Pigmentosa 28 (FAM161A) Retinitis Pigmentosa 59 (DHDDS) Rhizomelic Chondrodysplasia Rhizomelic Chondrodysplasia Riboflavin Responsive Complex 1 Roberts Syndrome (ESCO2) Punctata, Type 3 (AGPS) Punctata, Type 1 (PEX7) Deficiency (ACAD9) Salla Disease (SLC17A5) Sandhoff Disease (HEXB) Schimke Immunoosseous Dysplasia Segawa Syndrome (TH) (SMARCAL1) Severe Combined Severe Combined Sjogren-Larsson Syndrome Smith-Lemli-Opitz Syndrome Immunodeficiency, ADA-Related Immunodeficiency, Type Athabaskan (ALDH3A2) (DHCR7) (ADA) (DCLRE1C) Spinal Muscular Atrophy (SMN1) Spondylothoracic Dysostosis Steroid-Resistant Nephrotic Stuve-Wiedemann Syndrome (LIFR) (MESP2) Syndrome (NPHS2) Tay-Sachs Disease (HEXA) Tyrosinemia, Type I (FAH) Usher Syndrome, Type 1B (MYO7A) Usher Syndrome, Type 1C (USH1C) Usher Syndrome, Type 1D (CDH23) Usher Syndrome, Type 1F (PCDH15) Usher Syndrome, Type 2A (USH2A) Usher Syndrome, Type 3 (CLRN1) Very Long Chain Acyl-CoA Walker-Warburg Syndrome Wilson Disease (ATP7B) Wolman Disease (LIPA) Dehydrogenase Deficiency (FKTN) (ACADVL) X-Linked Juvenile Retinoschisis X-Linked Severe Combined Zellweger Spectrum Disorders, Zellweger Spectrum Disorders, (RS1) Immunodeficiency (IL2RG) PEX1-Related (PEX1) PEX2-Related (PEX2) Zellweger Spectrum Disorders, Zellweger Spectrum Disorders, PEX6-Related (PEX6) PEX10-Related (PEX10)

The test described has been developed and its performance characteristics determined by the CLIA-certified laboratory performing the test. This test has not been cleared or approved by the U.S. Food and Drug Administration (FDA). Although FDA does not currently clear or approve laboratory-developed tests in the

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