HELIX DIAGNOSTICS
Hypertrophic Cardiomyopathy Panel
Panel Description
Cardiomyopathies are a broad spectrum of structural and functional disorders of the heart musculature. There are many different causes of cardiomyopathies, which range from environmental exposures to inherited genetic risk factors. In cases where an external cause is not identified, and/or a family history is suspicious for hereditary risk, diagnostic genetic testing may be indicated.
This panel evaluates 48 genes associated with hereditary forms of hypertrophic cardiomyopathy.
Genes Tested (48)
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Important Panel Information
Turnaround time: 7-24 days
Preferred specimen: BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit
Shipping instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.
Hypertrophic Cardiomyopathy (HCM) is a condition in which the heart muscle becomes abnormally thick. This leads to a decrease in the heart's ability to pump blood effectively. This can cause fatigue, shortness of breath, swelling of the legs, heart rhythm abnormalities and, in severe cases, heart failure or sudden cardiac arrest.
It is important to note that in some cases HCM may be a feature of a syndromic condition with other extracardiac findings. Hereditary forms of HCM may follow autosomal dominant, autosomal recessive, X-linked, or mitochondrial inheritance patterns. This panel does not assess mitochondrial causes of HCM. Note that some of these genes may also be associated with other unrelated conditions; this means that when undergoing this test, there is a possibility of incidentally detecting carrier status for, or predisposition to, one of these unrelated conditions.
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.