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

Overview

Test order codeHelp: lmPCM-pnlAv6_L

Test name

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Pan Cardiomyopathy Panel (62 Genes) (PCM Panel)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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Order URL Help: https://personalizedmedicine.partners.org/Laboratory-For-Molecular-Medicine/Ordering/Cardiomyopathy/PanCardiomyopathy-Panel.aspx

Specimen source

Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
VisCap analysis
  • Agilent SureSelect
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NextSeq 550
  • Agilent SureSelect

Summary of what is tested

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Clinical utility

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Not provided

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

Testing strategy

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Inherited cardiomyopathies are a group of genetically heterogeneous cardiac diseases that are relatively common in the general population They are associated with heart failure and sudden cardiac death and have a substantial genetic component. Familial inheritance is common and typically follows an autosomal dominant pattern, though other inheritance are also observed. The predominant forms are hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), followed by arrhythmogenic right ventricular cardiomyopathy (ARVC) and left ventricular non-compaction (LVNC). 000 Inherited cardiomyopathies are a group of genetically heterogeneous cardiac diseases that are relatively common in the general population They are associated with heart failure and sudden cardiac death and have a substantial genetic component. Familial inheritance is common and typically follows an autosomal dominant pattern, though other inheritance are also observed. The predominant forms are hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), followed by arrhythmogenic right ventricular cardiomyopathy (ARVC) and left ventricular non-compaction (LVNC).

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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