Early-onset Coronary Heart Disease/Familial Hypercholesterolemia: Three-gene Profile (LDLR, APOB, PCSK9) (LDLR/PCSK9−Full Gene Sequencing, APOB−Single Exon Sequencing)

CPT: 81401; 81406(x2)
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Test Details

Synonyms

  • Apolipoprotein B
  • Low-density Lipoprotein Receptor
  • Proprotein Convertase Subtilisin/Kexin Type 9

Test Includes

This test covers all coding nucleotides of gene LDLR and PCSK9, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved splice donor and acceptor sites, as well as typically 20 flanking nucleotides in the 5′ and 3′ UTR. This test also covers the region of APOB where all disease associated mutations have been found (within a 200-nucleotide region in exon 26 of APOB)

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

Samples forwarded to Correlagen for testing and reporting. This profile may not be added to any super panels. 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
252880 CHD: LDLR/APOB/PCSK9 Full Seq 252881 Routing 68467-0
252880 CHD: LDLR/APOB/PCSK9 Full Seq 252883 CHD: LDLR/APOB/PCSK9 Full Seq N/A

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