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Early-onset Coronary Heart Disease/Familial Hypercholesterolemia: PCSK9 (Full Gene Sequencing)
- Proprotein Convertase Subtilisin/Kexin Type 9
Confirm a clinical diagnosis of familial hypercholesterolemia and allow early diagnosis in family members, thus promoting early intervention, which may prevent or repair atherosclerotic damage and lower the risk of CHD.
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 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). The FDA has determined that such clearance or approval is not necessary.
Whole blood; DNA is accepted (Call 866-647-0735 for DNA collection information.)
Causes for Rejection
In cases in which a known mutation can be documented, the physician may prefer to order test 252877.
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), Correlagen requires the result report of the first patient tested in the family (the index case), if not performed at Correlagen. Other family members are subsequently tested for the specific mutation found in the first patient tested.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|252873||CHD: PCSK9 Full Gene Sequence||252875||Routing||56158-9|
|252873||CHD: PCSK9 Full Gene Sequence||252876||CHD: PCSK9 Gene Seq||N/A|