Special Instructions

In cases where a known mutation can be documented, the physician may prefer to order test 252697. Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In the case of family tests (i.e., known mutations), the result report of the first patient tested in the family (the index case) should be submitted if not performed at a LabCorp facility. Other family members are subsequently tested for the specific mutation found in the first patient tested.

Limitations

The method does not reliably detect mosaic variants, large deletions, large duplications, inversions, or other rearrangements, nor does it detect deep intronic variants. The test may be affected by allele-dropout, may not allow determination of the exact numbers of T/A or microsatellite repeats, and does not allow any conclusion as to whether two heterozygous variants are present on the same or different chromosome copies. This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Biomarkers

LOINC Codes

Result Turnaround Time

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