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

Test Code

252880

CPT Codes
81479; 81479-59(x2)

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

Preferred Specimen

" Whole blood; DNA is accepted. (Call Correlagen at 781-647-0604 for DNA collection information.)
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Minimum Volume

"2 mL

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Instructions

"Samples forwarded to Correlagen Diagnostics for testing and reporting. This profile may not be added to any super panels. For all Correlagen tests, specimens must be accompanied by a completed consent form. 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.
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Transport Container

"Lavender-top (EDTA) tube

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Transport Temperature

"Samples may be stored for brief periods at 4°C but should be shipped on day of collection. Ship overnight at room temperature.
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Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

"Container broken or leaking; container not labeled or label not legible
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Methodology
"Sanger-based DNA sequencing "

FDA Status
" 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. "

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
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The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.