Dilated Cardiomyopathy: Sequencing Panel

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Condition Description

Hereditary dilated cardiomyopathy (DCM) may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the gene involved. DCM is characterized by left ventricular enlargement and reduced myocardial contraction force. Typically, DCM presents with one of three features: heart failure, thromboembolic disease, or arrhythmias and/or conduction system disease. Approximately 20-50% of idiopathic dilated cardiomyopathy (those cases not due to acquired causes) are thought to have a genetic cause.

Note: This test does not detect the retrotransposon insertion in the 3' UTR of the FKTN gene common in some Asian populations. For patients with suspected Fukuyama congenital muscular dystrophy, testing for the FKTN insertion is recommended. Analysis for the FKTN insertion is available as a separate assay.

Reference:
  • GeneReviews

Genes (39)

Evidence

Loading Data . . .
GeneOMIM TermContribution to DiseaseEvidence LevelPublications
ABCC9Cardiomyopathy, dilated, 1OMinorStrongHershberger RE (2011)Available tests
ACTC1 Cardiomyopathy, dilated, 1R; Left ventricular noncompaction 4MinorStrongHershberger RE (2011)Available tests
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC; Cardiomyopathy, hypertrophic, 23, with or without LVNCMinorStrongHershberger RE (2011)Available tests
ANKRD1Pending OMIM Phenotype TermMajorStrongHershberger RE (2011)Available tests
BAG3Cardiomyopathy, dilated, 1HHMinorStrongNorton N (2011)Available tests
CRYABCardiomyopathy, dilated, 1IIMinorStrongHershberger RE (2011)Available tests
CSRP3Cardiomyopathy, dilated, 1MMinorStrongHershberger RE (2011)Available tests
DESCardiomyopathy, dilated, 1IMinorStrongHershberger RE (2011)Available tests
DMDCardiomyopathy, dilated, 3BMinorDefinitiveHershberger RE (2011)Available tests
DSG2Cardiomyopathy, dilated, 1BBMinorStrongPosch MG (2008)Available tests
DSPDilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesisMajorStrongCarvajal-Huerta L (1998)Available tests
DSPCardiomyopathy, dilated, with woolly hair and keratodermaMajorStrongCarvajal-Huerta L (1998)Available tests
EMDEmery-Dreifuss muscular dystrophy 1, X-linkedMinorStrongHayashi YK (2006)Available tests
FKTNCardiomyopathy, dilated, 1XMinorStrongMurakami T (2006)Available tests
GATAD1Cardiomyopathy, dilated, 2BMinorStrongTheis JL (2011)Available tests
LAMA4Cardiomyopathy, dilated, 1JJMinorStrongHershberger RE (2011)Available tests
LAMP2Danon diseaseMinorStrongCheng Z (2012)Available tests
LAMP2Danon diseaseMinorStrongHershberger RE (2009)Available tests
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC; Cardiomyopathy, hypertrophic, 24; Left ventricular noncompaction 3MajorStrongHershberger RE (2011)Available tests
LMNACardiomyopathy, dilated, 1AMajorStrongHershberger RE (2011)Available tests
MYBPC3 Cardiomyopathy, dilated, 1MM; Left ventricular noncompaction 10MajorStrongHershberger RE (2011)Available tests
MYH6Cardiomyopathy, dilated, 1EEMajorStrongHershberger RE (2011)Available tests
MYH7 Cardiomyopathy, dilated, 1S; Left ventricular noncompaction 5MajorStrongHershberger RE (2011)Available tests
MYPN Cardiomyopathy, dilated, 1KK; Cardiomyopathy, familial restrictive, 4; Cardiomyopathy, hypertrophic, 22MinorStrongHershberger RE (2011)Available tests
MYPN Cardiomyopathy, dilated, 1KK; Cardiomyopathy, familial restrictive, 4; Cardiomyopathy, hypertrophic, 22MinorStrongPurevjav E (2012)Available tests
NEBLPending OMIM Phenotype TermMinorStrongPurevjav E (2010)Available tests
NEXNCardiomyopathy, dilated, 1CCMinorStrongHassel D (2009)Available tests
PDLIM3Pending OMIM Phenotype TermMinorStrongHershberger RE (2011)Available tests
PLNCardiomyopathy, dilated, 1PMinorStrongHershberger RE (2011)Available tests
PRDM16 Cardiomyopathy, dilated, 1LL; Left ventricular noncompaction 8MinorModerateJordan VK (2015)Available tests
RBM20Cardiomyopathy, dilated, 1DDMinorStrongHershberger RE (2010)Available tests
SCN5ACardiomyopathy, dilated, 1EMajorStrongHershberger RE (2011)Available tests
SGCDCardiomyopathy, dilated, 1LMinorStrongHershberger RE (2011)Available tests
TAZBarth syndromeMinorStrongHershberger RE (2011)Available tests
TCAPMuscular dystrophy, limb-girdle, type 2GMinorStrongHershberger RE (2011)Available tests
TCAPCardiomyopathy, hypertrophic, 25MinorStrongHershberger RE (2011)Available tests
TNNC1Cardiomyopathy, dilated, 1ZMinorStrongHershberger RE (2011)Available tests
TNNI3Cardiomyopathy, dilated, 2AMinorStrongHershberger RE (2011)Available tests
TNNT2 Cardiomyopathy, dilated, 1D; Left ventricular noncompaction 6MajorStrongHershberger RE (2011)Available tests
TPM1 Cardiomyopathy, dilated, 1Y; Left ventricular noncompaction 9MinorStrongHershberger RE (2011)Available tests
TTNCardiomyopathy, dilated, 1GMinorStrongHershberger RE (2011)Available tests
TTRAmyloidosis, hereditary, transthyretin-relatedMinorStrongMohty D (2013)Available tests
VCLCardiomyopathy, dilated, 1WMinorStrongHershberger RE (2011)Available tests
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Indications

This test is indicated for:
  • Confirmation of a clinical diagnosis of hereditary dilated cardiomyopathy (DCM).
  • Carrier testing in adults with a family history of hereditary dilated cardiomyopathy (DCM).

Methodology

Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient's genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not meant to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing. The patient's gene sequences are then compared to a standard reference sequence. Potentially causative variants and areas of low coverage are Sanger-sequenced. Sequence variations are classified as pathogenic, likely pathogenic, benign, likely benign, or variants of unknown significance. Variants of unknown significance may require further studies of the patient and/or family members.

Detection

Next Generation Sequencing: Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient's clinical/biochemical phenotype.

Analytical Sensitivity: ~99%.

Specimen Requirements

Submit only 1 of the following specimen types

Type: Whole Blood

Specimen Requirements:

In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml.

Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.

Type: Isolated DNA

Specimen Requirements:

In microtainer: 60 ug

Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.

Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.

  • Comprehensive Cardiomyopathy Sequencing and Deletion/Duplications Panels.
  • Dilated Cardiomyopathy: Deletion/Duplication Panel.

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