GeneDx :: Carrier Detection

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Carrier Detection

Information Sheet

Consent Document

How does Carrier Detection differ from Diagnostic Testing?

Carrier Detection is the process of testing relatives for a known mutation in a particular family that was previously identified at GeneDx. It is less costly and more rapid than a diagnostic analysis of the whole gene. Pricing is dependent on whether one or two mutations need to be tested.

How does Carrier Detection differ from Mutation Confirmation?

Carrier Detection refers to families with a mutation previously identified or confirmed at GeneDx. Mutation Confirmation refers to re-testing a person who had a mutation previously identified in a research laboratory.

How is Carrier Detection ordered?

Using the GeneDx

Sample Submission Form (Requisition), select Carrier Detection from the boxed section of the test list on page 2 and provide the name of the gene, name of the mutation, and the GeneDx accession number of the positive relative.

What specimen is required?

Our standard specimens for all tests are one pair of GeneDx buccal brushes or a single tube with 1-5 mL blood in EDTA. Please see our standard

Sample Requirements page.