Carrier Screening
Carrier Screening is appropriate for those of all ethnicities who want an expanded assessment of their risk of having an affected child.
This panel includes:
- disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG)
- an extended list of disorders recommended by national Jewish societies
- disorders that may have a severe presentation
- a selection of disorders found on the newborn screen
- several X-linked disorders, including fragile X syndrome
|
DISORDER |
GENE |
|---|---|
| 3-hydroxy-3-methylglutarayl-CoA (HMG-CoA) lyase deficiency | HMGCL |
| ABCC8-related disorders | ABCC8 |
| Abetalipoproteinemia | MTTP |
| ACAD9 deficiency | ACAD9 |
| Achromatopsia (CNGB3-related) | CNGB3 |
| Acrodermatitis enteropathica | SLC39A4 |
| Adenosine deaminase deficiency | ADA |
| Aicardi-Goutieres syndrome (SAMHD1-related) | SAMHD1 |
| Aldosterone synthase deficiency | CYP11B2 |
| Alpha-mannosidosis | MAN2B1 |
| Alpha-thalassemia | HBA1/HBA2 |
| Alpha-thalassemia X-linked intellectual disability syndrome | ATRX |
| Alport Syndrome (COL4A3-related) | COL4A3 |
| Alport Syndrome (COL4A4-related) | COL4A4 |
| Alport Syndrome, X-linked (COL4A5-related) | COL4A5 |
| Alström syndrome | ALMS1 |
| Andermann syndrome | SLC12A6 |
| Arginase deficiency | ARG1 |
| Argininosuccinic aciduria | ASL |
| Aromatase deficiency | CYP19A1 |
| Asparagine synthetase deficiency | ASNS |
| Aspartylglucosaminuria | AGA |
| Ataxia with vitamin E deficiency | TTPA |
| Ataxia-telangiectasia | ATM |
| Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia | AIRE |
| Autosomal recessive deafness 77 | LOXHD1 |
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) | SACS |
| Bardet-Biedl syndrome (BBS10-related) | BBS10 |
| Bardet-Biedl syndrome (BBS12-related) | BBS12 |
| Bartter syndrome type 4A | BSND |
| BBS1-related disorders | BBS1 |
| BBS2-related disorders | BBS2 |
| Beta-ketothiolase deficiency | ACAT1 |
| Bloom syndrome | BLM |
| Canavan disease | ASPA |
| Carbamoylphosphate synthetase I deficiency | CPS1 |
| Carnitine palmitoyltransferase I deficiency | CPT1A |
| Carnitine palmitoyltransferase II deficiency | CPT2 |
| Carpenter syndrome (RAB23-related) | RAB23 |
| Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders | RMRP |
| Cerebrotendinous xanthomatosis | CYP27A1 |
| CFTR-related disorders (including cystic fibrosis) | CFTR |
| Charcot-Marie-Tooth disease (NDRG1-related) | NDRG1 |
| Charcot-Marie-Tooth disease, X-linked (GJB1-related) | GJB1 |
| Chorea-acanthocytosis | VPS13A |
| Choroideremia | CHM |
| Chronic granulomatous disease (CYBA-related) | CYBA |
| Chronic granulomatous disease (CYBB-related) | CYBB |
| Citrin deficiency | SLC25A13 |
| Citrullinemia type 1 | ASS1 |
| Cockayne syndrome type A | ERCC8 |
| Cockayne syndrome type B | ERCC6 |
| Cohen syndrome | VPS13B |
| Combined malonic and methylmalonic aciduria (ACSF3-related) | ACSF3 |
| Combined oxidative phosphorylation deficiency (GFM1-related) | GFM1 |
| Combined oxidative phosphorylation deficiency (TSFM-related) | TSFM |
| Combined pituitary hormone deficiency (LHX3-related) | LHX3 |
| Combined pituitary hormone deficiency (PROP1-related) | PROP1 |
| Congenital adrenal hyperplasia due to 11-beta-hydroxylase-deficiency | CYP11B1 |
| Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | CYP21A2 |
| Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency | HSD3B2 |
| Congenital amegakaryocytic thrombocytopenia | MPL |
| Congenital disorder of glycosylation (ALG6-related) | ALG6 |
| Congenital disorder of glycosylation (MPI-related) | MPI |
| Congenital disorder of glycosylation (PMM2-related) | PMM2 |
| Congenital ichthyosis (TGM1-related) | TGM1 |
| Congenital insensitivity to pain with anhidrosis | NTRK1 |
| Congenital myasthenic syndrome (CHRNE-related) | CHRNE |
| Corneal dystrophy and perceptive deafness | SLC4A11 |
| CYP17A1-related disorders | CYP17A1 |
| Cystinosis | CTNS |
| DHDDS-related disorders | DHDDS |
| Dihydrolipoamide dehydrogenase deficiency (DLD) | DLD |
| DMD-related dystrophinopathy | DMD |
| Dysferlinopathy | DYSF |
| Dystrophic epidermolysis bullosa (COL7A1-related) | COL7A1 |
| Ehlers-Danlos syndrome, dermatosparaxis type | ADAMTS2 |
| Ellis-van Creveld syndrome (EVC-related) | EVC |
| Ellis-van Creveld syndrome (EVC2-related) | EVC2 |
| Emery-Dreifuss muscular dystrophy (EMD-related) | EMD |
| Enhanced S-cone syndrome/ retinitis pigmentosa 37 | NR2E3 |
| Ethylmalonic encephalopathy | ETHE1 |
| Fabry disease | GLA |
| Factor IX deficiency (Hemophilia B) | F9 |
| Familial dysautonomia | ELP1 |
| Familial hypercholesterolemia (LDLR-related) | LDLR |
| Familial hypercholesterolemia (LDLRAP1-related) | LDLRAP1 |
| Fanconi anemia type A | FANCA |
| Fanconi anemia type C | FANCC |
| Fanconi anemia type G | FANCG |
| FKRP-related disorders | FKRP |
| FKTN-related disorders | FKTN |
| Fragile X syndrome | FMR1 |
| Fumarate hydratase deficiency | FH |
| Galactokinase deficiency galactosemia | GALK1 |
| Galactosemia (GALT-related) | GALT |
| Gaucher disease | GBA |
| Gitelman syndrome (SLC12A3-related) | SLC12A3 |
| GJB2-related DFNB1 nonsyndromic hearing loss and deafness | GJB2 |
| GLE1-related disorders | GLE1 |
| Glutaric acidemia type I | GCDH |
| Glutaric acidemia type IIA | ETFA |
| Glutaric acidemia type IIC | ETFDH |
| Glycine encephalopathy (AMT-related) | AMT |
| Glycine encephalopathy (GLDC-related) | GLDC |
| Glycogen storage disease type Ia | G6PC |
| Glycogen storage disease type Ib | SLC37A4 |
| Glycogen storage disease type II (Pompe disease) | GAA |
| Glycogen storage disease type III | AGL |
| Glycogen storage disease type IV/ adult polyglucosan body disease | GBE1 |
| Glycogen storage disease type V | PYGM |
| Glycogen storage disease type VII | PFKM |
| GRACILE syndrome/ BCS1L-related disorders | BCS1L |
| Guanidinoacetate methyltransferase deficiency | GAMT |
| HBB-related hemoglobinopathies | HBB |
| Hereditary fructose intolerance | ALDOB |
| Hereditary hemochromatosis type 2 (HJV-related) | HJV |
| Hereditary hemochromatosis type 3 | TFR2 |
| Hermansky-Pudlak syndrome type 1 | HPS1 |
| Hermansky-Pudlak syndrome type 3 | HPS3 |
| Holocarboxylase synthetase deficiency | HLCS |
| Homocystinuria due to CBS deficiency | CBS |
| Homocystinuria due to MTHFR deficiency | MTHFR |
| Homocystinuria, cobalamin E type | MTRR |
| HSD17B4-related disorders | HSD17B4 |
| Hydrolethalus syndrome type 1 | HYLS1 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome | SLC25A15 |
| Hypohidrotic ectodermal dysplasia (EDA-related) | EDA |
| Hypophosphatasia | ALPL |
| Inclusion body myopathy 2 | GNE |
| Isovaleric acidemia | IVD |
| Joubert syndrome 2/ TMEM216-related disorders | TMEM216 |
| Junctional epidermolysis bullosa (LAMB3-related) | LAMB3 |
| Junctional epidermolysis bullosa (LAMC2-related) | LAMC2 |
| KCNJ11-related disorders | KCNJ11 |
| Krabbe disease | GALC |
| LAMA2-related muscular dystrophy | LAMA2 |
| LAMA3-related disorders | LAMA3 |
| Leber congenital amaurosis 10/ CEP290-related disorders | CEP290 |
| Leber congenital amaurosis 13 | RDH12 |
| Leber congenital amaurosis 5 | LCA5 |
| Leber congenital amaurosis 8/ CRB1-related disorders | CRB1 |
| Leigh syndrome, French Canadian type | LRPPRC |
| Leukoencephalopathy with vanishing white matter (EIF2B5-related) | EIF2B5 |
| Limb-girdle muscular dystrophy type 2A (calpainopathy) | CAPN3 |
| Limb-girdle muscular dystrophy type 2C | SGCG |
| Limb-girdle muscular dystrophy type 2D | SGCA |
| Limb-girdle muscular dystrophy type 2E | SGCB |
| Lipoid congenital adrenal hyperplasia | STAR |
| Lipoprotein lipase deficiency | LPL |
| Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency | HADHA |
| Lysinuric protein intolerance | SLC7A7 |
| Lysosomal acid lipase deficiency | LIPA |
| Major histocompatibility complex class II deficiency (CIITA-related) | CIITA |
| Maple syrup urine disease (MSUD) type 1A | BCKDHA |
| Maple syrup urine disease (MSUD) type 1B | BCKDHB |
| Maple syrup urine disease (MSUD) type 2 | DBT |
| Medium chain acyl-CoA dehydrogenase (MCAD) deficiency | ACADM |
| Megalencephalic leukoencephalopathy with subcortical cysts type 1 | MLC1 |
| Menkes disease/ ATP7A-related disorders | ATP7A |
| Metachromatic leukodystrophy (ARSA-related) | ARSA |
| Methylmalonic acidemia (MMAA-related) | MMAA |
| Methylmalonic acidemia (MMAB-related) | MMAB |
| Methylmalonic acidemia (MUT-related) | MUT |
| Methylmalonic acidemia with homocystinuria, cobalamin C type | MMACHC |
| Methylmalonic acidemia with homocystinuria, cobalamin D type | MMADHC |
| Microphthalmia /clinical anophthalmia (VSX2-related) | VSX2 |
| Mitochondrial complex I deficiency/ Leigh syndrome (NDUFAF5-related) | NDUFAF5 |
| Mitochondrial complex I deficiency/ Leigh syndrome (NDUFS6– related) | NDUFS6 |
| Mitochondrial DNA depletion syndrome (MPV17-related) | MPV17 |
| Mitochondrial myopathy and sideroblastic anemia 1 | PUS1 |
| Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease | TYMP |
| MKS1-related disorders | MKS1 |
| Mucolipidosis type II/III (GNPTAB-related) | GNPTAB |
| Mucolipidosis type III (GNPTG-related) | GNPTG |
| Mucolipidosis type IV | MCOLN1 |
| Mucopolysaccharidosis type I | IDUA |
| Mucopolysaccharidosis type II (Hunter syndrome) | IDS |
| Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) | SGSH |
| Mucopolysaccharidosis type IIIB (Sanfilippo B syndrome) | NAGLU |
| Mucopolysaccharidosis type IIIC (Sanfilippo C syndrome)/ retinitis pigmentosa 73 | HGSNAT |
| Mucopolysaccharidosis type IIID (Sanfilippo D syndrome) | GNS |
| Mucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosis | GLB1 |
| Mucopolysaccharidosis type IX | HYAL1 |
| Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) | ARSB |
| Multiple sulfatase deficiency | SUMF1 |
| N-Acetylglutamate synthase deficiency | NAGS |
| Nemaline myopathy 2 | NEB |
| Nephrogenic diabetes insipidus (AQP2-related) | AQP2 |
| Nephrotic syndrome/ congenital Finnish nephrosis (NPHS1-related) | NPHS1 |
| Nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related) | NPHS2 |
| Neuronal ceroid lipofuscinosis (TPP1-related) | TPP1 |
| Neuronal ceroid-lipofuscinosis (CLN3-related) | CLN3 |
| Neuronal ceroid-lipofuscinosis (CLN5-related) | CLN5 |
| Neuronal ceroid-lipofuscinosis (CLN6-related) | CLN6 |
| Neuronal ceroid-lipofuscinosis (MFSD8-related) | MFSD8 |
| Neuronal ceroid-lipofuscinosis (PPT1-related) | PPT1 |
| Neuronal ceroid-lipofuscinosis/ Northern epilepsy (CLN8-related) | CLN8 |
| Niemann-Pick disease type A/B | SMPD1 |
| Niemann-Pick disease type C (NPC1-related) | NPC1 |
| Niemann-Pick disease type C (NPC2-related) | NPC2 |
| Nijmegen breakage syndrome | NBN |
| OPA3-related conditions | OPA3 |
| Ornithine aminotransferase deficiency | OAT |
| Ornithine transcarbamylase (OTC) deficiency | OTC |
| Osteopetrosis (TCIRG1-related) | TCIRG1 |
| Pendred syndrome | SLC26A4 |
| Peroxisomal acyl-CoA oxidase deficiency | ACOX1 |
| Phenylalanine hydroxylase deficiency (including Phenylketonuria (PKU)) | PAH |
| Phosphoglycerate dehydrogenase deficiency/ Neu-Laxova syndrome type 1 | PHGDH |
| Polycystic kidney disease (PKHD1-related) | PKHD1 |
| Polymicrogyria (ADGRG1-related) | ADGRG1 |
| POMGNT1-related disorders | POMGNT1 |
| Pontocerebellar hypoplasia (RARS2-related) | RARS2 |
| Pontocerebellar hypoplasia (SEPSECS-related) | SEPSECS |
| Postnatal progressive microcephaly with seizures and brain atrophy/ Infantile cerebral and cerebellar atrophy (MED17-related) | MED17 |
| Primary carnitine deficiency | SLC22A5 |
| Primary Ciliary Dyskinesia (DNAH5-related) | DNAH5 |
| Primary Ciliary Dyskinesia (DNAI1-related) | DNAI1 |
| Primary Ciliary Dyskinesia (DNAI2-related) | DNAI2 |
| Primary hyperoxaluria type 1 | AGXT |
| Primary hyperoxaluria type 2 | GRHPR |
| Primary hyperoxaluria type 3 | HOGA1 |
| Progressive familial intrahepatic cholestasis type 2 | ABCB11 |
| Propionic acidemia (PCCA-related) | PCCA |
| Propionic acidemia (PCCB-related) | PCCB |
| PRPS1-related disorders | PRPS1 |
| PSAP-related disorders | PSAP |
| Pycnodysostosis | CTSK |
| Pyruvate carboxylase deficiency | PC |
| Pyruvate dehydrogenase complex deficiency (PDHA1-related) | PDHA1 |
| Pyruvate dehydrogenase complex deficiency (PDHB-related) | PDHB |
| RAPSN-related disorders | RAPSN |
| Renal tubular acidosis with deafness (ATP6V1B1-related) | ATP6V1B1 |
| Retinitis pigmentosa 25 | EYS |
| Retinitis pigmentosa 26 | CERKL |
| Retinitis Pigmentosa 28 | FAM161A |
| Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related) | PEX7 |
| Rhizomelic chondrodysplasia punctata type 3 | AGPS |
| Roberts syndrome | ESCO2 |
| RPE65-related disorders | RPE65 |
| RPGRIP1L-related disorders | RPGRIP1L |
| RTEL-1-related disorders | RTEL1 |
| Sandhoff disease | HEXB |
| Schimke immuno-osseous dysplasia | SMARCAL1 |
| Severe combined immune deficiency (DCLRE1C-related) | DCLRE1C |
| Severe combined immunodeficiency (RAG2-related) | RAG2 |
| Severe congenital neutropenia due to VPS45-deficiency | VPS45 |
| Severe congenital neutropenia type 3 | HAX1 |
| Sialic acid storage disorders | SLC17A5 |
| Sjögren-Larsson syndrome | ALDH3A2 |
| SLC26A2-related disorders | SLC26A2 |
| SLC35A3-related disorders | SLC35A3 |
| Smith-Lemli-Opitz syndrome | DHCR7 |
| Spastic paraplegia type 15 | ZFYVE26 |
| Spastic paraplegia type 49 | TECPR2 |
| Spinal muscular atrophy | SMN1 |
| Spondylothoracic dysostosis | MESP2 |
| Steel Syndrome | COL27A1 |
| Stüve-Wiedemann syndrome | LIFR |
| Tay-Sachs disease/ hexosaminidase A deficiency | HEXA |
| Tetrahydrobiopterin deficiency (PTS-related) | PTS |
| Transient infantile liver failure | TRMU |
| Tyrosine hydroxylase deficiency | TH |
| Tyrosinemia type I | FAH |
| Tyrosinemia type II | TAT |
| Usher syndrome type IB/ MYO7A-related disorders | MYO7A |
| Usher syndrome type IC/ USH1C-related disorders | USH1C |
| Usher syndrome type ID | CDH23 |
| Usher syndrome type IF/ PCDH15-related disorders | PCDH15 |
| Usher syndrome type IIA/ USH2A-related disorders | USH2A |
| Usher syndrome type IIIA | CLRN1 |
| Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency | ACADVL |
| VRK1-related disorders | VRK1 |
| Wilson disease | ATP7B |
| WNT10A-related disorders | WNT10A |
| X-linked adrenoleukodystrophy | ABCD1 |
| X-linked creatine transporter deficiency | SLC6A8 |
| X-linked juvenile retinoschisis | RS1 |
| X-linked myotubular myopathy | MTM1 |
| X-linked severe combined immunodeficiency (X-SCID) | IL2RG |
| Xeroderma pigmentosum complementation group A | XPA |
| Xeroderma pigmentosum complementation group C | XPC |
| Zellweger spectrum disorder (PEX1-related) | PEX1 |
| Zellweger spectrum disorder (PEX10-related) | PEX10 |
| Zellweger spectrum disorder (PEX12-related) | PEX12 |
| Zellweger spectrum disorder (PEX2-related) | PEX2 |
| Zellweger spectrum disorder (PEX6-related) | PEX6 |
Turnaround time: up to 15 days
Specimen: Saliva or Blood.