Carrier Status Insight Report

Your carrier status can reveal information that may affect the health of your future children.

DNA testing will help you, your significant other and your doctor learn what mutations you and your partner may carry and the chances of your children inheriting mutations or variants that cause genetic diseases.

We test for many recessive genetic conditions including many recommended by the American College of Medical Genetics and by the American College of Obstetrics and Gynecology.

While family history can be an important indicator, it alone cannot confirm whether a recessive genetic condition exists in you and your family. Recessive genetic conditions can be carried silently in a family for generations, with no one being affected. Genetic testing can tell you whether you are a carrier of a gene mutation, which could mean a risk for passing the associated condition to your children.

A person who has one "normal" and one defective gene for a recessive genetic condition is a carrier but typically does not develop the disease because the missing function is supplied by the "normal" copy of the gene. In recessive conditions, both copies of the gene must be defective for the person to develop the disease.

If both parents are carriers, then each child has a 25% chance of having the disease, a 25% chance of inheriting normal genes, and a 50% chance of being a carrier. If only one parent is a carrier, then each child has a 50% chance of being a carrier, but the children are very unlikely to have the disease.

Popular Carrier Status Tests

  • 3-Methylcrotonyl-CoA carboxylase deficiency
  • Acrodermatitis enteropathica
  • Alpha-1 antitrypsin deficiency
  • Amyotrophic lateral sclerosis
  • Argininosuccinate lyase deficiency
  • Autoimmune polyglandular syndrome, type I
  • Bartter syndrome type 4A
  • Beta-ketothiolase deficiency
  • Beta-thalassemia
  • Biotinidase deficiency
  • Bloom syndrome
  • Canavan disease
  • Carnitine deficiency, primary systemic
  • Cerebrotendinous xanthomatosis
  • Citrullinemia type I
  • Corticosterone methyl oxidase deficiency
  • Crigler-Najjar syndrome
  • Cystic fibrosis
  • Diabetes, permanent neonatal
  • Dihydropyrimidine dehydrogenase deficiency
  • Dubin-Johnson syndrome
  • Ehlers-Danlos syndrome, dermatosparaxis
  • Ehlers-Danlos syndrome, hypermobility
  • Ehlers-Danlos syndrome, kyphoscoliotic
  • Ethylmalonic aciduria
  • Factor XI deficiency
  • Familial dysautonomia
  • Familial Mediterranean fever
  • Fanconi anemia
  • Galactokinase deficiency
  • Galactosemia
  • Gaucher disease
  • Glutaric acidemia, type 1
  • Glycogen storage disease, type 1A
  • GM1-gangliosidosis
  • Hearing loss, DFNB1 and DFNB9 nonsyndromic
  • Hearing loss, DFNB59 nonsyndromic
  • Hemochromatosis
  • Hemoglobin C
  • Hemoglobin E
  • HMG-CoA lyase deficiency
  • Homocystinuria, cblE type
  • Homocystinuria, classic
  • Hurler syndrome
  • Krabbe disease
  • Lipoprotein lipase deficiency, familial
  • Maple syrup urine disease
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • Methylmalonic acidemia
  • MTHFR deficiency
  • Mucolipidosis II
  • Mucolipidosis III
  • Mucolipidosis IV
  • Multiple carboxylase deficiency
  • Nephrotic syndrome, steroid-resistant
  • Niemann-Pick disease
  • Phenylketonuria
  • Polycystic kidney disease
  • Pompe disease
  • Prekallikrein deficiency
  • Propionic acidemia
  • Prothrombin deficiency
  • Rh-null syndrome
  • Rickets, pseudovitamin D-deficiency
  • Sandhoff disease
  • Short-chain acyl-CoA dehydrogenase deficiency
  • Sick sinus syndrome
  • Sickle cell disease
  • Spherocytosis, hereditary
  • Tay-Sachs disease
  • Tay-Sachs pseudodeficiency
  • Thrombocytopenia, congenital amegakaryocytic
  • Tyrosinemia
  • Very long-chain acyl-CoA dehydrogenase deficiency
  • Von Willebrand disease type 2 Normandy
  • Von Willebrand disease type 3