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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 tested 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.

Is Carrier Detection only offered for unaffected carriers?

No, Carrier Detection can be used in symptomatic or asymptomatic individuals, and for dominant or recessive mutations.

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. See Mutation Confirmation on the menu of Tests Offered.

How is Carrier Detection ordered?

Using the GeneDx Sample Submission Form (Requisition), select Carrier Detection from the boxed section on the last page of the test list. Provide the name of the gene, name of the mutation, and the GeneDx accession number of the positive relative that we previously tested.

Can Carrier Detection be ordered based on a relative's results from another CLIA-certified diagnostic lab?

GeneDx recommends that all family members be tested in the same CLIA laboratory. If that is not possible then GeneDx will accept such cases under these conditions: (1) We need a mutation description in detail, just as described for our Mutation Confirmation process. (2) We ask for a positive control specimen, which will receive no invoice and no report. (3) If a positive control is not provided, negative results in the Carrier test will carry a caveat stating that GeneDx did not have the opportunity to confirm that we can detect the mutation in that specific family.

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. DNA specimens will be accepted. Please see our standard Sample Requirements page.



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