Carrier Status

These reports include genetic variants that have been linked to recessive conditions and provide insight into carrier status for the conditions listed below. These reports include only a subset of possible variants that may be linked to a condition, and it is possible to have other variants not included in these reports. Those with a family history of any of these conditions or increased risk based on ethnicity or family origin and are considering having children should discuss options for comprehensive testing with their healthcare provider.

Note: Sample reports do not cover all possible test result outcomes, and for many reports, residual risk estimates vary by ethnicity.

Carrier Status reports package insert

White Paper 23-11: Estimating Carrier Frequency, Carrier Detection Rate and Post-Test Carrier Risk for Recessive Disorders

Possible test results†
Report Gene Variants Relevant Ethnicities
Report Beta Thalassemia and Related Hemoglobinopathies Test GeneHBB Variants10 Relevant Ethnicities Cypriot, Greek, Italian, Sicilian, Sardinian
Report Canavan Disease GeneASPA Variants3 Relevant Ethnicities Ashkenazi Jewish
Report Familial Hyperinsulinism (ABCC8-Related) GeneABCC8 Variants3 Relevant Ethnicities Ashkenazi Jewish