Diagnostics

Learn how our advanced genetic tests are revolutionizing health

CarrierMap Expanded Carrier Screening

CarrierMap is a comprehensive genetic carrier screen designed to help determine your risk of having a child with a genetic disease. Offered in partnership with Recombine, a CooperSurgical Company, the CarrierMap test is recommended for people who are planning a family or early in pregnancy. CarrierMap includes conditions that are passed down in an autosomal recessive or X-linked manner.

Prevalence

The prevalence of early onset, autosomal recessive/X-linked genetic conditions:

  • 1/300 children is born with a genetic condition
  • 80% of children born with a genetic condition have no family history of that disease.

Included Disorders

The CarrierMap expanded carrier screening test is a pan-ethnic genetic test which includes all diseases recommended for screening by the American College of Medical Geneticists (ACMG) and the American Congress of Obstetricians and Gynecologists (ACOG). Over 300 total genetic conditions are tested, including:

  • Cystic Fibrosis
  • Fragile X
  • Spinal Muscular Atrophy
  • Hemoglobinopathies
  • Bloom Syndrome
  • Canavan Disease
  • Familial Dysautonomia
  • Fanconi Anemia Type C
  • Gaucher Disease
  • Mucolipidosis Type IV
  • Niemann-Pick Type A
  • Tay-Sachs Disease