Special Instructions

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In cases where a known mutation can be documented, the physician may prefer ordering an alternative test (252710). For family tests involving known mutations, the result report of the first patient tested should be submitted if not performed at a LabCorp facility.

Limitations

This method does not reliably detect mosaic variants, large deletions, large duplications, inversions, or other rearrangements. It may also be affected by allele-dropout, may not determine the exact numbers of T/A or microsatellite repeats, and does not conclude whether two heterozygous variants are on the same or different chromosome copies.

Biomarkers

LOINC Codes

Result Turnaround Time

Related Documents

Stability Requirements