GeneSeq®: Cardio-Early-onset Coronary Artery Disease/Familial Hypercholesterolemia Profile

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Turnaround Time: 15 - 21 days
CPT Code:

81401, 81479, 81406(2)

Test Type: 10 mL Whole blood


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.

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

Gotto AM Jr. Targeting high-risk young patients for statin therapy. JAMA. 2004 Jul 21; 292(3): 377-378. PubMed 15265854

Leren TP. Cascade genetic screening for familial hypercholesterolemia. Clin Genet. 2004 Dec; 66(6):483-487. PubMed 15521974

Lloyd-Jones D, Adams RJ, Brown TM, et al. Heart disease and stroke statistics-2010 update: A report from the American Heart Association. Circulation. 2012 Feb 23; 121(7):e46-e215. PubMed 20019324

Oram JF. Tangier disease and ABCA1. Biochem Biophys Acta. 2000 Dec 15;1529(1-3):321-330. PubMed 11111099

Rodenburg J, Vissers MN, Wiegman A, et al. Statin treatment in children with familial hypercholesterolemia; the younger, the better. Circulation. 2007 Aug 7; 116(6):664-668. PubMed 17664376

Sanghera DK, Aston CE, Saha N, Kamboh MI. DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are associated with the risk of coronary heart disease. Am J Hum Genet. 1998 Jan; 62(1):36-44. PubMed 9443862

Takada D, Emi M, Ezura Y, et al. Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred. J Hum Genet. 2002; 47(12):656-664. PubMed 12522687

Varret M, Abifadel M, Rabès JP, Boileau C. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet. 2008 Jan; 73(1):1-13. PubMed 18028451

Willer CJ, Sanna S, Jackson AU, et al. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet. 2008 Feb; 40(2):161-169. PubMed 18193043

Wilson P, D'Agostino RB, Levy D, Belanger AM, Silbershatz H, Kannel WB. Prediction of coronary heart disease using risk factor categories. Circulation. 1998 May 12;97(18):1837-1847. PubMed 9603539

Collection Details:

Collection Instructions:

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

Yellow-top (ACD) tube or lavender-top (EDTA) tube.

Maintain specimen at room temperature.