iGene Cardiac 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 play an important role in the etiology of cardiac disorders. A mutation in a single gene may be associated with several clinical presentations, and mutations in different genes may 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 cardiac disease.
Covered Diseases / Risk Areas: Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Catecholaminergic Polymorphic Ventricular Tachycardia, Romano-Ward Long QT Syndromes, Brugada Syndromes, Familial Hypercholesterolemia, and Malignant Hyperthermia Susceptibility.
- Genes (23): ACTC1, APOB, COL3A1, DSG2, DSP, GLA, KCNH2, KCNQ1, LDLR, LMNA, MYBPC3, MYH7, MYL3, PCSK9, PKP2, PRKAG2, RYR1, RYR2, SCN5A, TNNI3, TNNT2, TPM1, and TTN
Test Code: 9002
• Confirmation of a clinical diagnosis in symptomatic patients with cardiovascular conditions.
• Risk assessment of asymptomatic family members of patients with cardiovascular conditions
Test Info Sheet: iGene Cardiac Panel
Requisition: 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, 81405×5, 81406×10, 81407×3, 81408×2, 81479×2
Pricing: Please contact us at (949) 916-8886 or firstname.lastname@example.org
- Methodology: Next-Generation Sequencing (NGS)
Comprehensive Cardiomyopathy Panel
Familial Hypercholesterolemia Panel
Long QT Syndrome Panel
1. Adler, A. & Viskin, S. Clinical Features of Genetic Cardiac Diseases Related to Potassium Channelopathies. Card Electrophysiol Clin 8, 361–372 (2016).
2. Aintablian, H. K., Narayanan, V., Belnap, N., Ramsey, K. & Grebe, T. A. An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach. Mol Genet Metab Rep 10, 38–44 (2017).
3. 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).
4. 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).
5. Fatkin, D. Guidelines for the diagnosis and management of familial dilated cardiomyopathy. Heart Lung Circ 20, 691–693 (2011).
6. Hershberger, R. E. & Morales, A. Dilated Cardiomyopathy Overview, in GeneReviews(R) (eds. Pagon, R. A. et al.) (University of Washington, Seattle, 1993).
7. Ho, C. Y. New Paradigms in Hypertrophic Cardiomyopathy: Insights from Genetics. Prog Pediatr Cardiol 31, 93–98 (2011).
8. Marian, A. J. & Roberts, R. Molecular genetic basis of hypertrophic cardiomyopathy: genetic markers for sudden cardiac death. J Cardiovasc Electrophysiol 9, 88–99 (1998).
9. Mizusawa, Y. Recent advances in genetic testing and counseling for inherited arrhythmias. J Arrhythm 32, 389–397 (2016).
10. Ohno, S. The genetic background of arrhythmogenic right ventricular cardiomyopathy. J Arrhythm 32, 398–403 (2016).
11. 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).
12. 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).
13. Walsh, R. & Cook, S. A. Issues and Challenges in Diagnostic Sequencing for Inherited Cardiac Conditions. Clin Chem 63, 116–128 (2017).
14. 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).
15. “Leading Causes of Death”, http://www.cdc.gov/nchs/fastats/leading-causes-of-death.htm.