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GTR Home > Tests > Pan Cardiomyopathy Panel (62 Genes)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family. [from MedlinePlus Genetics]

Inheritance pattern

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Autosomal dominant inheritance

Conditions tested

Target population

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Individuals with cardiomyopathy, specifically HCM, DCM, ARVC, LVNC, or RCM.

Citations

  • Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. - PubMed ID: 23274168

Clinical validity

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The detection rate of the Pan Cardiomyopathy Panel is approximately 35% for HCM, ~37% for DCM and ~50% for ARVC. The detection rate for the other cardiomyopathies remains unknown.

Citations
  • The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. - PubMed ID: 24503780
  • Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. - PubMed ID: 25611685

Clinical utility

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Not provided

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