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
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 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 | support@otogenetics.com
 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

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