Cardiology
Whole exome sequencing (WES) with in silico gene panel analysis
Clinical Report (Download a sample report here)
~3-6 weeks*
For detailed information about the sample requirements, please consult our clinical sample requirements page.
This is the core panel for Dilated Cardiomyopathy (DCM) and Conduction Defects. We also offer an expanded panel which includes an additional 16 genes (88 genes in total). See test details for the Dilated Cardiomyopathy (DCM) and Conduction Defects - Expanded Panel.
Dilated cardiomyopathy (DCM) is one of the most common cause of heart failure; it is estimated that DCM prevalence may be as high as 1:250-400. The diagnosis of dilated cardiomyopathy is established when both of the following are present: Left ventricular enlargement (enlargement is most commonly assessed in adults by either echocardiography or cardiac MRI) and Systolic dysfunction, a reduction in the myocardial force of contraction.
Dilated cardiomyopathy is a clinically heterogenous disease, and one of the factors that differentiates clinical phenotypes is genotype. Truncating variants in TTN gene are identified in around 20% of the cases of dilated cardiomyopathies.
Conduction defects refer to abnormalities in the electrical conduction system of the heart, which is responsible for coordinating the heart's rhythm and ensuring that the heart muscles contract in a synchronised manner to effectively pump blood. These defects can lead to irregular heartbeats, slow heart rates, or even heart block.
All 37 mitochondrial genes are included in this panel.
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