Cardiomyopathies, heart diseases are the leading cause of death in the United States
Several variations of cardiomyopathy exist; many of them being hereditary
The types of cardiomyopathy that exist are known to exist are:
- Dilated cardiomyopathy (DCM),
- Hypertrophic cardiomyopathy (HCM)
- Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)
Prevalence Of Gene Mutations In Familial Cardiomyopathy
Familial (or inherited) hypertrophic cardiomyopathy affects an estimated 1 in 500 people worldwide. It is the most common genetic heart disease in the United States. Mutations in two genes, MYH7 and MYBPC3, account for ~70-80% of the cases of familial hypertrophic cardiomyopathy. Mutations in 4 other genes, TNNI3, TNNT2, TPM1, and MYL3, account for >10% of the cases of familial hypertrophic cardiomyopathy.
It is estimated that 750,000 people in the United States have dilated cardiomyopathy; roughly half of these cases are familial. Mutations in 30 genes have been found to cause dilated cardiomyopathy or DCM.
Many other genes contribute to familial cardiomyopathy. Comprehensive genetic testing such as the Gx™ Cardiomyopathy Gene Panel is necessary to identify the underlying genetic cause(s).
Genetic Testing Provides
- Diagnosis of clinical condition
- Guidance for disease prognosis
- Identification of at-risk family members
- Implications for therapeutic drugs
Otogenetics Cardiomyopathy Gene Testing
The Gx™ Cardiomypopathy Gene Testing sequences 44 genes associated with susceptibility to cardiomypathies of various types
ABCC9, ACTC1, ACTN2, BMPR2, CAV3, DES, GLA, LAMA4, LAMP2, LDB3, LMNA, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-L2, MT-TM,MT-TQ, MT-TS1, MT-TS2, MYBPC3, MYH6, MYH7, MYL2, MYL3,MYPN, PLN, PRKAG2, PSEN1, PSEN2, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL
Option To Test For Novel Cardiomyopathy Genes
The genetic causes for some cardiomyopathy patients remain unknown. Novel genetic causes for cardiomyopathy may be identified by a more comprehensive genetic test. To examine more genes for the diagnosis of novel genetic causes of rare diseases including cardiomyopathy, please click here to view our clinical whole exome sequencing test.
Reporting Options To Fit Your Needs
We offer the expertise to help you get what you need. Our options include:
- Diagnostic Report for patient specific diagnosis
- Bioinformatics Analysis Report for researchers looking for variants based on published literature