Special Instructions

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In cases in which a known mutation can be documented, the physician may prefer to order test 252720. In the case of family tests (ie, known mutations), please submit the result report of the first patient tested in the family (the index case), if not performed at a LabCorp facility. Other family members are subsequently tested for the specific mutation found in the first patient tested.

Limitations

This method does not reliably detect mosaic variants; large deletions; large duplications, inversions or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or different chromosome copies.

Biomarkers

LOINC Codes

Result Turnaround Time

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