Dilated 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. Dilated cardiomyopathies are characterized by an enlargement and weakening of the ventricles that leads to a progressive enlargement of the heart and impairment of the systolic pump functions. Weakening of the heart muscle eventually leads to heart failure and is the most common reason why dilated cardiomyopathy patients are referred for cardiac transplantation. It is estimated that in the United States about 750,000 people have dilated cardiomyopathy; of these about one third can be classified as familial.
- Familial dilated cardiomyopathies, caused by a mutation in a single gene or in more than one gene, may be associated with several different clinical presentations; however, mutations in different genes may also attribute to similar phenotypes. 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 dilated cardiomyopathy.
- Genes (33): ABCC9, ACTC1, ACTN2, DES, LAMA4, LDB3, LMNA, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, MT-TS1, MT-TS2, MYBPC3, MYH6, MYH7, MYPN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNI3, TNNT2, TPM1, and VCL
Test Code: 3001
• Molecular confirmation of a clinical diagnosis of hereditary dilated cardiomyopathy (DCM) in symptomatic patients.
• Carrier testing in asymptomatic family members of an affected proband.
Test Info Sheet: Dilated 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: 81401×2, 81403×2; 81405×6, 81406×5, 81407×4, 81479×14
Pricing: Please contact us at (949)916-8886 or firstname.lastname@example.org
- Methodology: Next-Generation Sequencing (NGS)
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2. de Gonzalo-Calvo, D. et al. Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers. Int J Cardiol 228, 870–880 (2017).
3. Fatkin, D. Guidelines for the diagnosis and management of familial dilated cardiomyopathy. Heart Lung Circ 20, 691–693 (2011).
4. Hershberger, R. E. & Morales, A. Dilated Cardiomyopathy Overview, in GeneReviews(R) (eds. Pagon, R. A. et al.) (University of Washington, Seattle, 1993).
5. 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).
6. Walsh, R. & Cook, S. A. Issues and Challenges in Diagnostic Sequencing for Inherited Cardiac Conditions. Clin Chem 63, 116–128 (2017).
7. “Leading Causes of Death”, http://www.cdc.gov/nchs/fastats/leading-causes-of-death.htm.