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GeneSeq®: Cardio Early-onset Coronary Artery Disease/Familial Hypercholesterolemia Profile
This test covers all coding nucleotides of 6 genes: ABCA1, APOA2, APOC3, LDLR, PCSK9, and PON2; 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 coronary artery disease and identify presymptomatic family members, guiding prophylactic measures.
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.
Mutation analysis is performed using the Agilent Sure Select XT® enrichment method and the Illumina® next-generation sequencing platform. Regions of the interest include all exons and splice junctions for each gene and limited regions for the following: SHOC2 (exon 2), APOB (556bp of exon 26), and AKAP9 (exon 18). 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). Variants known to be benign and synonymous variants not previously recorded in our internal variant data bases are not reported.
Coronary artery disease (CAD) affects roughly 8% of Americans 20 years of age and older and is one of the leading causes of morbidity and mortality in the US. Genetic testing for the presence of germline mutations in the genes known to be associated with early-onset CAD and familial hypercholesterolemia (FH) may:
• Confirm a diagnosis of familial hypercholesterolemia
• Identify first-degree relatives of an index patient who has FH or early-onset coronary artery disease are at increased risk and may benefit from the initiation of preventative treatment
• Identify patients who carry mutations in lipid biosynthesis genes who may be at increased risk for CAD and may benefit from regular cardiac screening
• Facilitate appropriate genetic counseling
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
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. Please call customer service at 866-647-0735 before submitting specimens for family testing (ie, known mutations).
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|451416||GeneSeq: Coronary Artery Disea||451331||Specimen Type:||31208-2|
|451416||GeneSeq: Coronary Artery Disea||451418||Results:||48003-8|
|451416||GeneSeq: Coronary Artery Disea||451404||Key Findings||53037-8|
|451416||GeneSeq: Coronary Artery Disea||451405||Additional Information||49549-9|
|451416||GeneSeq: Coronary Artery Disea||451406||Gene Information||51968-6|
|451416||GeneSeq: Coronary Artery Disea||451407||Tech Spec Results||51958-7|
|451416||GeneSeq: Coronary Artery Disea||451408||Seq Variants Detected||69548-6|
|451416||GeneSeq: Coronary Artery Disea||451409||Disclaimer||N/A|
|451416||GeneSeq: Coronary Artery Disea||451411||Director Review:||48672-0|
|451416||GeneSeq: Coronary Artery Disea||451413||51969-4|