Hypertrophic Cardiomyopathy Panel

Hypertrophic Cardiomyopathy Panel

  • Heart disease is listed by the CDC as the leading cause of death. Many cardiac diseases have multifactorial causes, but research indicates that genetic predispositions frequently play an important etiological role. Cardiac diseases that affect the heart muscle are referred to as cardiomyopathies. Hypertrophic cardiomyopathy is the second most common form of cardiomyopathy. The disease is characterized by a thickening of the walls of the ventricles. Ventricle size often remains normal but the thickening of the walls leads to restrictions of the blood flow. Hypertrophic cardiomyopathy is often transmitted genetically and comprises about 35-40% of pediatric cardiomyopathy cases. About 500,000 people are affected by hypertrophic cardiomyopathy in the United States.

    Familial hypertrophic cardiomyopathy can be caused by a mutation in a single gene or in more than one gene. Genetic testing by Next-Generation Sequencing facilitates analysis of multiple genes at the same time and thereby increases the likelihood of detecting potentially pathogenic mutations that may predispose an individual to develop a hypertrophic cardiomyopathy.

  • Genes (18): BMPR2, CAV3, GLA, LAMP2, MT-TG, MT-TI, MT-TK, MT-TQ, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, and TTR
    Test Code: 3002
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis of hereditary hypertrophic cardiomyopathy (HCM) in symptomatic patients.
    • Carrier testing in asymptomatic family members of an affected proband.
    Test Info Sheet: Hypertrophic Cardiomyopathy Panel
    Requisitions: General Test Requisition Form
  • Turn-Around Time: 4 Weeks
  • Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
  • Other Specimens: See details here
  • CPT Codes: 81401×1, 81404×2, 81405×7, 81406×3, 81407×2, 81479×3
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests:
    Arrhythmias Panel
    Comprehensive Cardiomyopathy Panel
    Dilated Cardiomyopathy Panel
    Familial Hypercholesterolemia Panel
    Long QT Syndrome Panel
  • References:
    1. Burke, M. A., Cook, S. A., Seidman, J. G. & Seidman, C. E. Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy. J Am Coll Cardiol 68, 2871–2886 (2016).
    2. Fatkin, D. Guidelines for the diagnosis and management of familial dilated cardiomyopathy. Heart Lung Circ 20, 691–693 (2011).
    3. Ho, C. Y. New Paradigms in Hypertrophic Cardiomyopathy: Insights from Genetics. Prog Pediatr Cardiol 31, 93–98 (2011).
    4. Marian, A. J. & Roberts, R. Molecular genetic basis of hypertrophic cardiomyopathy: genetic markers for sudden cardiac death. J Cardiovasc Electrophysiol 9, 88–99 (1998).
    5. Richard, P. et al. Advising a cardiac disease gene positive yet phenotype negative or borderline abnormal athlete: is sporting disqualification really necessary? Br J Sports Med 46 Suppl 1, i59-68 (2012).
    6. Teekakirikul, P., Kelly, M. A., Rehm, H. L., Lakdawala, N. K. & Funke, B. H. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn 15, 158–170 (2013).
    7. Walsh, R. & Cook, S. A. Issues and Challenges in Diagnostic Sequencing for Inherited Cardiac Conditions. Clin Chem 63, 116–128 (2017).
    8. Wang, L., Seidman, J. G. & Seidman, C. E. Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy. Ann Intern Med 152, 513–520, W181 (2010).
    9. “Leading Causes of Death”, http://www.cdc.gov/nchs/fastats/leading-causes-of-death.htm.

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