Myriad Foresight® Carrier Screen
Diseases
The list below shows what the Foresight Carrier Screen looks for. Each link will provide greater information on the disease listed. Click the links below to learn more.
- 11-beta-hydroxylase-deficient congenital adrenal hyperplasia
- 6-pyruvoyl-tetrahydropterin synthase deficiency
- ABCC8-related familial hyperinsulinism
- adenosine deaminase deficiency
- alpha thalassemia, HBA1/HBA2-related
- alpha-mannosidosis
- alpha-sarcoglycanopathy
- Alstrom syndrome
- AMT-related glycine encephalopathy
- Andermann syndrome
- argininemia
- argininosuccinic aciduria
- aspartylglucosaminuria
- ataxia with vitamin E deficiency
- ataxia-telangiectasia
- ATP7A-related disorders
- autoimmune polyglandular syndrome type 1
- autosomal recessive osteopetrosis type 1
- autosomal recessive polycystic kidney disease, PKHD1-related
- autosomal recessive spastic ataxia of Charlevoix-Saguenay
A
Expand List- Bardet-Biedl syndrome, BBS1-related
- Bardet-Biedl syndrome, BBS10-related
- Bardet-Biedl syndrome, BBS12-related
- Bardet-Biedl syndrome, BBS2-related
- BCS1L-related disorders
- beta-sarcoglycanopathy
- biotinidase deficiency
- Bloom syndrome
B
Expand List- calpainopathy
- Canavan disease
- carbamoylphosphate synthetase I deficiency
- carnitine palmitoyltransferase IA deficiency
- carnitine palmitoyltransferase II deficiency
- cartilage-hair hypoplasia
- cerebrotendinous xanthomatosis
- citrullinemia type 1
- CLN3-related neuronal ceroid lipofuscinosis
- CLN5-related neuronal ceroid lipofuscinosis
- CLN6-related neuronal ceroid lipofuscinosis
- CLN8-related neuronal ceroid lipofuscinosis
- Cohen syndrome
- COL4A3-related Alport syndrome
- COL4A4-related Alport syndrome
- combined pituitary hormone deficiency, PROP1-related
- congenital adrenal hyperplasia, CYP21A2-related
- congenital disorder of glycosylation type Ia
- congenital disorder of glycosylation type Ic
- congenital disorder of glycosylation, MPI-related
- Costeff optic atrophy syndrome
- cystic fibrosis
- cystinosis
C
Expand List- D-bifunctional protein deficiency
- delta-sarcoglycanopathy
- dihydrolipoamide dehydrogenase deficiency
- dysferlinopathy
- dystrophinopathy (including Duchenne/Becker muscular dystrophy)
- ERCC6-related disorders
- ERCC8-related disorders
- EVC-related Ellis-van Creveld syndrome
- EVC2-related Ellis-van Creveld syndrome
- Fabry disease
- familial dysautonomia
- familial Mediterranean fever
- Fanconi anemia complementation group A
- Fanconi anemia, FANCC-related
- FKRP-related disorders
- FKTN-related disorders
- fragile X syndrome
- free sialic acid storage disorders
D-F
Expand List- galactokinase deficiency
- galactosemia
- gamma-sarcoglycanopathy
- Gaucher disease
- GJB2-related DFNB1 nonsyndromic hearing loss and deafness
- GLB1-related disorders
- GLDC-related glycine encephalopathy
- glutaric acidemia, GCDH-related
- glycogen storage disease type Ia
- glycogen storage disease type Ib
- glycogen storage disease type III
- GNE myopathy
- GNPTAB-related disorders
- HADHA-related disorders
- Hb beta chain-related hemoglobinopathy
- hereditary fructose intolerance
- Herlitz junctional epidermolysis bullosa, LAMB3-related
- hexosaminidase A deficiency
- HMG-CoA lyase deficiency
- holocarboxylase synthetase deficiency
- homocystinuria, CBS-related
- hydrolethalus syndrome
- hypophosphatasia
G-H
Expand List- isovaleric acidemia
- Joubert syndrome 2
- junctional epidermolysis bullosa, LAMA3-related
- junctional epidermolysis bullosa, LAMC2-related
- KCNJ11-related familial hyperinsulinism
- Krabbe disease
- LAMA2-related muscular dystrophy
- Leigh syndrome, French-Canadian type
- lipoid congenital adrenal hyperplasia
- lysosomal acid lipase deficiency
I-L
Expand List- maple syrup urine disease type Ia
- maple syrup urine disease type Ib
- maple syrup urine disease type II
- medium chain acyl-CoA dehydrogenase deficiency
- megalencephalic leukoencephalopathy with subcortical cysts
- metachromatic leukodystrophy
- methylmalonic acidemia, cblA type
- methylmalonic acidemia, cblB type
- methylmalonic aciduria and homocystinuria, cblC type
- MKS1-related disorders
- mucolipidosis III gamma
- mucolipidosis IV
- mucopolysaccharidosis type I
- mucopolysaccharidosis type II
- mucopolysaccharidosis type IIIA
- mucopolysaccharidosis type IIIB
- mucopolysaccharidosis type IIIC
- MUT-related methylmalonic acidemia
- MYO7A-related disorders
M
Expand List- NEB-related nemaline myopathy
- nephrotic syndrome, NPHS1-related
- nephrotic syndrome, NPHS2-related
- Niemann-Pick disease type C1
- Niemann-Pick disease type C2
- Niemann-Pick disease, SMPD1-related
- Nijmegen breakage syndrome
- ornithine transcarbamylase deficiency
N-O
Expand List- PCCA-related propionic acidemia
- PCCB-related propionic acidemia
- PCDH15-related disorders
- Pendred syndrome
- peroxisome biogenesis disorder type 1
- peroxisome biogenesis disorder type 3
- peroxisome biogenesis disorder type 4
- peroxisome biogenesis disorder type 5
- peroxisome biogenesis disorder type 6
- phenylalanine hydroxylase deficiency
- POMGNT-related disorders
- Pompe disease
- PPT1-related neuronal ceroid lipofuscinosis
- primary carnitine deficiency
- primary hyperoxaluria type 1
- primary hyperoxaluria type 2
- primary hyperoxaluria type 3
- pycnodysostosis
- pyruvate carboxylase deficiency
- rhizomelic chondrodysplasia punctata type 1
- RTEL1-related disorders
P-R
Expand List- Sandhoff disease
- short-chain acyl-CoA dehydrogenase deficiency
- Sjogren-Larsson syndrome
- SLC26A2-related disorders
- Smith-Lemli-Opitz syndrome
- spastic paraplegia type 15
- spinal muscular atrophy
- spondylothoracic dysostosis
- TGM1-related autosomal recessive congenital ichthyosis
- TPP1-related neuronal ceroid lipofuscinosis
- tyrosine hydroxylase deficiency
- tyrosinemia type I
- tyrosinemia type II
- USH1C-related disorders
- USH2A-related disorders
- usher syndrome type 3
S-U
Expand List- very-long-chain acyl-CoA dehydrogenase deficiency
- Wilson disease
- X-linked adrenoleukodystrophy
- X-linked Alport syndrome
- X-linked congenital adrenal hypoplasia
- X-linked juvenile retinoschisis
- X-linked myotubular myopathy
- X-linked severe combined immunodeficiency
- xeroderma pigmentosum group A
- xeroderma pigmentosum group C