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