Background:
The inherited cardiomyopathies comprise a group of genetically heterogeneous diseases, the most common of which are hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and left ventricular non-compaction (LVNC). These disorders have an impact across all age groups. Overall, the prevalence of these disorders is estimated at approximately 1/500 (0.2%).
Restrictive Cardiomyopathy (RCM) is rare form of cardiomyopathy characterized by restrictive ventricular physiology with abnormal diastolic function (systolic volumes may be normal or reduced). This next-generation sequencing test is designed to detect mutations in the coding region of 9 genes associated with Restrictive Cardiomyopathy.
Reasons for Referral:
- Echocardiogram results suspicious for cardiomyopathy.
- Clinical presentation consistent with Restrictive Cardiomyopathy.
- Positive family history for Restrictive Cardiomyopathy (targeted testing is available if familial mutation is known).
- Carrier testing.
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.
Restrictive Cardiomyopathy (9 genes):
ACTC1, BAG3, CRYAB, DES, MYBPC3, MYH7, TNNI3, TNNT2, TTR
Methodology:
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References:
- Genetics Home Reference: http://ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy
Additional Info: