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
• 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 firstname.lastname@example.org
- Methodology: Next-Generation Sequencing (NGS)
Comprehensive Cardiomyopathy Panel
Dilated Cardiomyopathy Panel
Familial Hypercholesterolemia Panel
Long QT Syndrome Panel
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