What does CarrierCheck screen for?

CarrierCheck analyzes your DNA to see if you are a carrier of gene variants (or changes) associated with 67 inherited conditions. It can help you understand more about how your DNA may affect your future children.

  • 3-methylcrotonyl-CoA carboxylase deficiency (MCCC1-related)
  • 3-methylcrotonyl-CoA carboxylase deficiency (MCCC2-related)
  • Andermann syndrome
  • Autosomal recessive polycystic kidney disease
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay
  • Beta thalassemia and other beta-globin-related hemoglobinopathies
  • Bloom syndrome
  • Canavan disease
  • Carnitine palmitoyltransferase II deficiency
  • Citrullinemia, type 1
  • Combined malonic and methylmalonic aciduria
  • Combined pituitary hormone deficiency 2
  • Congenital disorder of glycosylation, type Ia
  • Cystic fibrosis
  • D-bifunctional protein deficiency
  • Dihydrolipoamide dehydrogenase deficiency
  • Familial dysautonomia
  • Fanconi anemia, group C
  • Galactokinase deficiency
  • Galactosemia
  • Glutaric acidemia, type I
  • Glycogen storage disease, type Ia
  • Glycogen storage disease, type Ib
  • Glycogen storage disease, type II
  • Glycogen storage disease, type III
  • GRACILE syndrome and other BCS1L-related disorders
  • Hemoglobin C disease
  • Hereditary fructose intolerance
  • Inclusion body myopathy 2
  • Isovaleric acidemia
  • Krabbe disease
  • Leber congenital amaurosis 10 and other CEP290-related ciliopathies
  • Leber congenital amaurosis 8, retinitis pigmentosa 12, and pigmented paravenous chorioretinal atrophy
  • Leigh syndrome, French-Canadian type
  • Limb-girdle muscular dystrophy, type 2A
  • Limb-girdle muscular dystrophy, type 2D
  • Limb-girdle muscular dystrophy, type 2E
  • Limb-girdle muscular dystrophy, Type 2I
  • Maple syrup urine disease, type 1b
  • Medium chain acyl-CoA dehydrogenase deficiency
  • Metachromatic leukodystrophy
  • Methylmalonic aciduria and homocystinuria, cobalamin C type
  • Mucolipidosis IV
  • Mucopolysaccharidosis, type IVb and GM1 gangliosidosis
  • Neuronal ceroid-lipofuscinosis (CLN5-related)
  • Neuronal ceroid-lipofuscinosis (PPT1-related)
  • Niemann-Pick disease, type A/B
  • Nijmegen breakage syndrome
  • Non-syndromic hearing loss (GJB2-related)
  • Pendred syndrome
  • Phenylalanine hydroxylase deficiency
  • Primary ciliary dyskinesia (DNAI1-related)
  • Primary hyperoxaluria, type 1
  • Primary hyperoxaluria, type 2
  • Retinitis pigmentosa 26
  • Rhizomelic chondrodysplasia punctata, type 1
  • Salla disease
  • Sandhoff disease
  • Sickle cell disease
  • Sjogren-Larsson syndrome
  • Sulfate transporter-related osteochondrodysplasia
  • Tay-Sachs disease
  • Tyrosinemia, type I
  • Usher syndrome, type IF
  • Usher syndrome, type III
  • Wilson disease
  • Zellweger syndrome spectrum (PEX1-related)