Carrier Screening Disease & Gene List

BASIC 5 HBA1/HBA2 Alpha-Thalassemia CFTR Cystic Fibrosis SMN1 Spinal Muscular Atrophy Beta Hemoglobinopathies Duchenne/Becker Muscular HBB DMD (Beta-Thalassemia and Sickle Cell) Dystrophy ACOG/ACMG 13 Alpha-Thalassemia Duchenne/Becker Muscular Mucolipidosis IV HBA1/HBA2 DMD MCOLN1 Dystrophy Beta Hemoglobinopathies Familial Dysautonomia Niemann-Pick Disease, HBB IKBKAP SMPD1 (Beta-thalassemia and Sickle Cell) Types A and B BLM Bloom Syndrome FANCC Fanconi Anaemia SMN1 Spinal Muscular Atrophy ASPA Canavan Disease GBA Gaucher Disease HEXA Tay-Sachs Disease CFTR Cystic Fibrosis ASHKANAZI JEWISH 38 3-Phosphoglycerate Dyskeratosis Congenita Multiple Sulphatase PHGDH RTEL1 SUMF1 Dehydrogenase Deficiency Deficiency Abetalipoproteinaemia Ehlers-Danlos Syndrome Nemaline Myopathy: NEB MTTP ADAMTS2 NEB VIIc Related Alport Syndrome Familial Dysautonomia Niemann-Pick Disease, COL4A3 IKBKAP SMPD1 Type A&B Arthrogryposis, Mental Familial Hyperinsulinism Polycystic Kidney Disease, SLC35A3 ABCC8 PKHD1 Retardataion and Seizures Autosomal Recessive Bardet-Biedl Syndrome Fanconi Anaemia Retinitis Pigmentosa, BBS2 FANCC DHDDS Autosomal Recessive Bloom Syndrome Fukuyama Congenital Smith-Lemli-Opitz BLM FKTN DHCR7 Muscular Dystrophy Syndrome ASPA Canavan Disease GALT Galactosemia Type I SMN1 Spinal Muscular Atrophy Carnitine Palmitoyltransferase II Gaucher Disease Types I, II, Tay-Sachs Disease CPT2 GBA HEXA Deficiency III Congenital Amegakaryocytic Glycogen Storage Disease: Tyrosinemia: Type I, II, III MPL G6PC FAH Thrombocytopenia Type IA Congenital Disorder of Joubert Syndrome Usher Syndrome: Type IF PMM2 TMEM216 PCDH15 Glycosylation: Type IA Cystic Fibrosis Maple Syrup Urine Disease, Usher Syndrome: Type IIIA CFTR BCKDHB CLRN1 Type IB Dihydrolipoamide Dehydrogenase Mucolipidosis IV Wilson Disease DLD MCOLN1 ATP7B Deficiency Duchenne/Becker Muscular Zellweger Spectrum DMD PEX2 Dystrophy Disorders PAN-ETHNIC 167 ABCC8 Hypertrophic Glycogen storage disease cardiomyopathy, dilated Familial hyperinsulinism G6PC typeIa (GSDIa) MYL3 cardiomyopathy ABCD1 X-linked adrenoleukodystrophy Adrenomyeloneuropathy Addison Glucose-6-phosphate Nemaline Myopathy: NEB disease (X-ALD) G6PD dehydrogenase deficiency NEB related ABCD4 Pompe disease (GAA Niemann-Pick disease Methylmalonic acidemia with GAA deficiency) NPC1 (Type C1) ACAD8 Niemann-Pick disease homocystinuria GALC Krabbe Disease NPC2 (Type C2) ACADM Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency GALE Galactosemia Type III NPHS1 Nephrotic syndrome ACADS Short-chain acyl-CoA dehydrogenase (SCAD) deficiency GALK1 Galactosemia Type II NPHS2 Nephrotic syndrome ACADSB 2-methylbutyryl-CoA 3-methylglutaconic dehydrogenase deficiency GALT Galactosemia Type I OPA3 aciduria (3MGA) Type I A CLIA Accredited Laboratory | 4553 Winters Chapel Road #100, Atlanta, GA 30360 | 855.686.4363 | www.otogenetics.com | [email protected]

Carrier Screening Disease & Gene List

ACADVL Ornithine Very long-chain acyl-CoA Gaucher disease (Types I, II, Transcarbamylase dehydrogenase (VLCAD) deficiency GBA & III) OTC Deficiency (OTC) ACAT1 Glutaric acidemia Type Beta-ketothiolase deficiency (βKT) GCDH I (GA1) PAH Phenylketonuria (PKU) ACSF3 Combined malonic and Disorders of biopterin Congenital hypothyroidism methylmalonic aciduria GCH1 regeneration PAX8 (CH) ACTA2 Pyruvate Carboxylase Marfan syndrome GJB2 Hearing Loss PC deficiency ACTC1 hypertrophic cardiomyopathy, Disorders of biopterin dilated cardiomyopathy GJB3 hearing loss PCBD1 regeneration ADA Severe combined immunodeficiency (SCID) GJB6 Hearing Loss PCCA Propionic acidemia (PROP) ADAMTS2 Ehlers-Danlos Syndrome GLA Fabry disease PCCB Propionic acidemia (PROP) AGXT Primary hyperoxaluria GNMT Hypermethioninemia (MET) PCDH15 Usher syndrome 1F AHCY Zellweger Spectrum Hypermethioninemia (MET) GRHPR Primary hyperoxaluria PEX1 Disorders APC 3-hydroxyacyl-CoA dehydrogenase deficiency Zellweger Spectrum Familial Adenomatous Polyposis HADH (M/SCHAD) PEX2 Disorders APOB 3-Phosphoglycerate Trifunctional protein Dehydrogenase Deficiency Familiar hypercholesterolemia HADHA deficiency (TFP) PHGDH (PHGDH) ARG1 Trifunctional protein Autosomal recessive Arginase deficiency (ARG) HADHB deficiency (TFP) PKHD1 polycystic kidney disease ASL Alpha thalassemia Arrhythmogenic right (Hemoglobin Disorder-Var- ventricular Argininosuccinic aciduria (ASA) HBA1 Hb) PKP2 cardiomyopathy ASPA Alpha thalassemia Congenital disorder of (Hemoglobin Disorder-Var- glycosylation, type 1A, Canavan disease HBA2 Hb) PMM2 PMM2 related ASS1 Citrullinemia (CIT) Type I HBB (I ) Sickle cell disease POMGNT1 Muscle eye brain disease ATP7B Methylmalonic acidemia Wolff-Parkinson-White Wilson Disease HCFC1 with homocystinuria PRKAG2 syndrome AUH 3-methylglutaconic aciduria (3MGA) Type I HEXA Tay-Sachs disease RTEL1 Dyskeratosis Congenita BCKDHA Maple Syrup Urine Disease (MSUD) Type 1A HEXB Sandhoff disease RYR1 Malignant hyperthermia BBS2 Catecholaminergic Bardet-Biedl Syndrome BBS2 Multiple Carboxylase polymorphic ventricular related HLCS Deficiency (MCD) RYR2 tachycardia BCKDHB Maple Syrup Urine Disease 3-hydroxy-3-methylglutaryl- Disorders of biopterin (MSUD) Type 1B HMGCL CoA lyase deficiency (HMG) PTS regeneration BLM Disorders of biopterin Bloom syndrome HPD Tyrosinemia (TYR I, II, III) QDPR regeneration BTD 3-hydroxy-2-methylbutyryl- Cardiomyopathy, Brugada CoA dehydrogenase syndrome, and cardiac Biotinidase deficiency (BIOT) HSD17B10 deficiency (2M3HBA) SCN5A conditions CBS Mucopolysaccharidosis Primary carnitine Homocystinuria (HCY) IDUA Type I (MPS I) SLC22A5 deficiency (CUD) col3A1 Ehlers-Danlos syndrome, vascular Citrullinemia Type II (CIT II) type IKBKAP Familial dysautonomia SLC25A13 COL4A3 X-linked severe combined Carnitine-acylcarnitine Alport Syndrome IL2RG immunodeficiency (SCID) SLC25A20 translocase (CACT) CD320 Methylmalonic acidemia due to transcobalamin receptor defect IVD Isovaleric acidemia (IVA) SLC26A4 Pendred syndrome A CLIA Accredited Laboratory | 4553 Winters Chapel Road #100, Atlanta, GA 30360 | 855.686.4363 | www.otogenetics.com | [email protected]

Carrier Screening Disease & Gene List

CFTR Romano-Ward long-QT syndrome types 1,2, 3, Arthrogryposis, Mental Cystic fibrosis (CF) KCNH2 Brugada syndrome SLC35A3 retardation and Seizures CLRN1 Romano-Ward long-QT syndrome types 1,2, 3, Congenital hypothyroidism Usher syndrome 3A KCNQ1 Brugada syndrome SLC5A5 (CH) CPT1A Carnitine palmitoyltransferase I deficiency (CPT IA) MAT1A Hypermethioninemia (MET) SMN1 Spinal Muscular Atrophy CPT2 3-methylcrotonyl-CoA Carnitine palmitoyltransferase II carboxylase deficiency (3- Niemann-Pick disease deficiency (CPT II) MCCC1 MCC) SMPD1 (Type A & B) CYP1B1 3-methylcrotonyl-CoA carboxylase deficiency (3- Multiple sulpjhatase primary congenital glaucoma MCCC2 MCC) SUMF1 deficiency CYP21A2 21-hydroxylase deficiency (CAH) MCEE Methylmalonic acidemia TAT Tyrosinemia (TYR I, II, III) DBT Maple Syrup Urine Disease 3-methylglutaconic (MSUD) MCOLN1 Mucolipidosis type IV TAZ aciduria (3MGA) Type I DHCR7 Smith-Lemli-Opitz Syndrome Malonyl-CoA decarboxylase Transcobalamin deficiency MLYCD deficiency (MAL) TCN2 DHDDS Retinitis pigmentosa, autosomal Methylmalonic acidemia Congenital hypothyroidism recessive MMAA (cblA) TG (CH) DLD Familial thoracic aordic Maple Syrup Urine Disease Methylmalonic acidemia aneurysm, Loeys-Dietz (MSUD) Type 111 MMAB (cblB) TGFBR1 Syndrome, etc. DMD Familial thoracic aordic Duchenne/Becker Muscular (I) Methylmalonic acidemia aneurysm, Loeys-Dietz Dystrophy MMACHC (cblC) TGFBR2 Syndrome DNAJC19 3-methylglutaconic aciduria (I) Methylmalonic acidemia Congenital hypothyroidism (3MGA) Type V MMADHC (cblC) THRA (CH) DSC2 Arthythmogenic right ventricular Congenital amegakaryocytic Congenital hypothyroidism cardiomyopathy MPL thrombocytopenia THRB (CH) DSG2 Arthythmogenic right ventricular Homocystinuria (HCY) cardiomyopathy MTHFR TMEM216 Joubert syndrome DSP Arthythmogenic right ventricular Homocystinuria (HCY) Arrhythmogenic right cardiomyopathy ventricular cardiomyopathy, muscular MTR TMEM43 dystrophy DUOX2 Congenital hypothyroidism (CH) MTRR Homocystinuria (HCY) TNNI3 Familial cardiomyopathy ETFA Abetalipoproteinase Glutaric acidemia type II (GA2) MTTP Deficiency (ADA) TNNT2 Familial cardiomyopathy ETFB Methylmalonic acidemia Glutaric acidemia type II (GA2) MUT (MUT) TPM1 Familial cardiomyopathy ETFDH Hypertrophic cardiomyopathy, dilated Congenital hypothyroidism Glutaric acidemia type II (GA2) MyBPC2 cardiomyopathy TPO (CH) FAH Congenital hypothyroidism Tyrosinemia (TYR I, II, III) MYH11 Warfin syndrome TSHB (CH) FANCC Hypertrophic cardiomyopathy, dilated Congenital hypothyroidism Fanconi Anemia MYH7 cardiomyopathy TSHR (CH) FBN1 Hypertrophic cardiomyopathy, dilated USH1b Usher syndrome and Marfan Syndrome, etc. MYL2 cardiomyopathy (Myo7a) deafness FKTN Fukuyama congenital muscular dystrophy USH1C Usher Syndrome

A CLIA Accredited Laboratory | 4553 Winters Chapel Road #100, Atlanta, GA 30360 | 855.686.4363 | www.otogenetics.com | [email protected]