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Hereditary Nonpolyposis Colorectal Cancer (HNPCC): PMS2 (Known Mutation)
Identify who in a family harbors the familial mutation and is at high risk of the disease and who does not harbor the familial mutation and is not at increased risk of the disease. Family testing for known familial mutations can identify presymptomatic mutation carriers within affected families who are at high risk of developing the familial disease.
This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; 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 on different chromosome copies
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
Once a mutation is identified in an index patient, family members can be tested for the presence of that specific mutation (single-amplicon testing). Please note, if additional amplicons are required for family testing, the patient will be charged for each additional amplicon.
Whole blood; DNA is accepted (Call 800-345-4363 for DNA collection information.)
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled or label not legible; improper anticoagulant
This option is available when the mutation is known and can be documented by the ordering physician. If the mutation cannot be documented, please order 511630.
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing. 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.