Diseases Foresight screens
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.
A
- 6-pyruvoyl-tetrahydropterin synthase deficiency
- adenosine deaminase deficiency
- alpha thalassemia, HBA1/HBA2-related
- alpha-mannosidosis
- alpha-sarcoglycanopathy
- Alstrom syndrome
- 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
C
- 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
- CLN8-related neuronal ceroid lipofuscinosis
- Cohen syndrome
- COL4A3-related Alport syndrome
- COL4A4-related Alport syndrome
- combined pituitary hormone deficiency, PROP1-related
- congenital adrenal hyperplasia, CYP11B1-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
D - F
- 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 hyperinsulinism, ABCC8-related
- familial hyperinsulinism, KCNJ11-related
- 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
G - H
- 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
- glycine encephalopathy, AMT-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
- hexosaminidase A deficiency
- HMG-CoA lyase deficiency
- holocarboxylase synthetase deficiency
- homocystinuria, CBS-related
- hydrolethalus syndrome
- hypophosphatasia
I - L
- isovaleric acidemia
- Joubert syndrome 2
- junctional epidermolysis bullosa, LAMA3-related
- junctional epidermolysis bullosa, LAMB3-related
- junctional epidermolysis bullosa, LAMC2-related
- Krabbe disease
- Leigh syndrome, French-Canadian type
- lipoid congenital adrenal hyperplasia
- lysosomal acid lipase deficiency
M
- 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
- muscular dystrophy, LAMA2-related
- MUT-related methylmalonic acidemia
- MYO7A-related disorders
N - O
- NEB-related nemaline myopathy
- nephrotic syndrome, NPHS1-related
- nephrotic syndrome, NPHS2-related
- neuronal ceroid lipofuscinosis, CLN6-related
- Niemann-Pick disease type C1
- Niemann-Pick disease type C2
- Niemann-Pick disease, SMPD1-related
- Nijmegen breakage syndrome
- ornithine transcarbamylase deficiency
P - R
- 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
S - U
- 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
V - Z
- very-long-chain acyl-CoA dehydrogenase deficiency
- Wilson disease
- X-linked adrenal hypoplasia congenita
- X-linked adrenoleukodystrophy
- X-linked Alport syndrome
- X-linked juvenile retinoschisis
- X-linked myotubular myopathy
- X-linked severe combined immunodeficiency
- xeroderma pigmentosum group A
- xeroderma pigmentosum group C
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