Early-onset Coronary Heart Disease/Familial Hypercholesterolemia: PCSK9 (Full Gene Sequencing)

CPT: 81406
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Test Details

Synonyms

  • Proprotein Convertase Subtilisin/Kexin Type 9

Test Includes

This test covers all coding nucleotides of gene PCSK9 plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5′ and 3′ UTR.

Use

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.

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 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.

Methodology

DNA sequencing

Specimen Requirements

Specimen

Whole blood; DNA is accepted (Call 866-647-0735 for DNA collection information.)

Volume

2 mL

Container

Lavender-top (EDTA) tube

Storage Instructions

Samples may be stored for brief periods at 4°C but should be shipped on day of collection. Ship overnight at room temperature.

Causes for Rejection

Container broken or leaking; container not labeled or label not legible

Clinical Information

Special Instructions

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.

References

Goldberg AC, Hopkins PN, Toth PP, et al. Familial hypercholesterolemia: Screening, diagnosis, and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011 May-Jun; 5(3):133-140. 21600517
Varret M, Abifadel M, Rabès JP, Boileau C. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet. 2008 Jan; 73(1):1-13. 18028451

LOINC® Map

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

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The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf