Special Instructions

In cases where a known mutation can be documented, physicians may prefer to order test 252704 instead. Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In family tests, it is necessary to submit the result report of the first tested patient if not performed at a LabCorp facility. Other family members are subsequently tested for the specific mutation found in the first tested patient.

Limitations

This test may not reliably detect mosaic variants, large deletions, large duplications, inversions, deep intronic variants, or large rearrangements. There is a potential for allele dropout, and it may not allow determination of T/A or microsatellite repeat quantities. Additionally, this test does not discern whether two heterozygous variants are on the same or different chromosome copies. It was developed and performance characteristics determined by Labcorp but has not been FDA-cleared or approved.

Biomarkers

LOINC Codes

Result Turnaround Time

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