Please login to order a test.
GeneSeq®: Cardio - Familial Hypercholesterolemia Profile
This test covers all coding nucleotides of LDLR and PCSK9; plus at least two and typically 10 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 10 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).
Confirm a clinical diagnosis of familial hypercholesterolemia (FH) and allow early diagnosis in family members, thus promoting early intervention, which may prevent or repair atherosclerotic damage and lower the risk of coronary artery disease.
This analysis does not rule out germline mosaicism, the presence of large chromosomal aberrations (including deletions, insertions, and rearrangements), mutations in regions or genes not included in this test, and possible inter/intragenic interactions between sequence variants. False-positive or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, mislabeled specimens, or erroneous representation of family relationships.
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).
Mutation analysis is performed using the Agilent Sure Select XT® enrichment method and the Illuminar next-generation sequencing platform. Regions of interest include all exons and splice junctions for each gene and limited regions for APOB (556bp of exon 26). Sequencing reads are aligned with the hg19 build of the human genome reference sequence. Analytical sensitivity is based on the depth of coverage across the regions of interest and is provided separately for each gene. Greater than 98% of target bases are synonymous variants not previously recorded at ≥20x coverage. Sanger sequencing is used to confirm mutation identity and analyze regions with low coverage. Variants are reported using numbering and nomenclature recommended by the Human Genome Variation Society (HGVS: http://hgvs.org/). Variants known to be benign and synonymous variants not previously recorded in our internal variant data bases are not reported.
Genetic testing for presence of a germline mutation in the genes known to be associated with FH can confirm a diagnosis of FH and also facilitate detection of at-risk children in affected families. Mutations in the genes LDLR, APOB, and PCSK9 account for more than 90% of cases of FH.
10 mL whole blood or 30 mL if ordering multiple tests
Causes for Rejection
Frozen specimen; container broken or leaking; container not labeled or label not legible; improper anticoagulant
For all tests, specimens must be accompanied by a completed consent form. See sample physician office consent form: Consent for Genetic Testing (in Related Documents). In cases in which a known mutation can be documented, the physician may prefer to order Test 451382, Mutation-specific Sequencing, Whole Blood (link in Related Information). Please call customer service at 866-647-0735 before submitting specimens for family testing (ie, known mutations).