Genetic cardiovascular diseases differ widely in their clinical presentation and age of onset. CeGaT’s Diagnostic Panel for Cardiac Diseases covers conditions such as cardiomyopathies, cardiac arrhythmias, familial hypercholesterolemias, and congenital heart defects. We have now updated the panel based on current scientific knowledge, adding 73 genes across several gene sets while retaining the established panel structure.
Expanded Testing for Congenital Heart Defects
One of the most substantial changes concerns the gene set “Isolated and Syndromal Congenital Heart Defects,” which now comprises 126 genes. Newly included genes such as SMG9, TMEM260, and ALDH1A2 are associated with different forms of congenital heart disease, expanding the range of genetic causes covered by the gene set.
Broader Coverage of Hereditary Dyslipidemias
The update also extends the scope of genetic testing for hereditary lipid disorders. The gene set has been expanded from 12 to 18 genes and now covers a broader spectrum of hereditary dyslipidemias, including conditions associated with low HDL cholesterol and hypoalphalipoproteinemias. Accordingly, the gene set has been renamed “Hereditary Dyslipidemias with Cardiovascular Risk (including Hypercholesterolemia).”