Special Instructions

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. If this test indicates a known mutation, it may be preferable to order test 252687. In the case of family tests for known mutations, the result report of the first patient tested in the family should be submitted if not performed at a LabCorp facility. Other family members are tested for the specific mutation found in the first patient.

Limitations

The methodology does not reliably detect mosaic variants, large deletions, large duplications, inversions, or other rearrangements, and may be affected by allele-dropout. It may not accurately determine the exact number of T/A or microsatellite repeats, and cannot conclude whether two heterozygous variants are on the same or different chromosome copies. The test was developed and its performance characteristics were determined by Labcorp and is not cleared or approved by the FDA.

Biomarkers

LOINC Codes

Result Turnaround Time

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