M0099
MMC (Maternal Myopathy with Cardiomyopathy): Mitochondrial Diseases
Test Details: This assay detects mutations in the mitochondrial DNA which are responsible for maternal inheritance of Myopathies with Cardiomyopathy. Mitochondrial cardiomyopathy can be described as a myocardial condition characterized by abnormal heart-muscle structure, function, or both secondary to genetic defects involving the mitochondrial respiratory chain, in the absence of concomitant coronary artery disease, hypertension, valvular disease or congenital heart disease. The typical cardiac manifestations are hypertrophic and dilated cardiomyopathy, arrhythmias, left ventricular myocardial non-compaction and heart failure which can worsen acutely during a metabolic crisis.
Category
Molecular Genetics
Pre-test Information
Clinical and family history is mandatory.
Report Delivery
4 working days
Gender
All
Organ
Multi-Organ
MMC (Maternal Myopathy with Cardiomyopathy): Mitochondrial Diseases
4400
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