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Carrier Status/Risk to Offspring

Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, can cause a genetic disorder. This type of testing is for individuals who have a family history of a genetic disorder and to people in ethnic groups with an increased risk of specific genetic conditions. Having both parents tested can provide information about a couple's risk of having a child with a genetic condition.

Conditions Included in Your Report:

  • 3-methylcrotonyl-CoA carboxylase deficiency
  • Alpha-1 antitrypsin deficiency
  • Amyotrophic lateral sclerosis
  • Beta thalassemia
  • Biotinidase deficiency
  • Bloom syndrome
  • Canavan disease
  • Cystic Fibrosis
  • Diabetes, permanent neonatal
  • Factor XI deficiency
  • Familial dysautonomia
  • Familial Mediterranean fever
  • Fanconi anemia
  • Galactosemia
  • Gaucher disease
  • Glutaric acidemia I
  • Glycogen storage disease type Ia
  • Hearing loss, nonsyndromic
  • Hemochromatosis
  • Hemoglobin C diseases
  • Hemoglobin E diseases
  • HMG-CoA lyase deficiency
  • Maple syrup urine disease
  • Medium-chain acyl-coA dehydrogenase deficiency
  • Methylmalonic acidemia
  • Mucolipidosis type IV
  • Multiple carboxylase deficiency
  • Niemann-Pick disease
  • Phenylketonuria
  • Polycystic kidney disease
  • Pompe disease
  • Propionic acidemia
  • Sick sinus syndrome
  • Tay-Sachs disease
  • Tay-Sachs pseudodeficiency
  • Tyrosinemia type I
  • Very long-chain acyl-coA dehydrogenase deficiency