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Early-onset Coronary Heart Disease/Familial Hypercholesterolemia: LDLR (Full Gene Sequencing)
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Test Code
252388
CPT Codes
81479
Includes
This test covers all coding nucleotides of gene LDLR, 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 nu
Preferred Specimen
Whole blood; DNA is accepted
Minimum Volume
2 mL
Instructions
"In cases in which there is a known mutation that can be documented, the physician may prefer to order test 252640.
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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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
Transport Temperature
"Samples may be stored for brief periods at 4°C. Ship overnight at room temperature. Maintain specimen 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
Container broken or leaking; container not labeled or label not legible
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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This test was developed and its performance characteristics determined by LabCorp
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Reference Range
"Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.
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