Dilated Cardiomyopathy Panel
A comprehensive 66-gene panel for assessing hereditary dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy, powered by the Helix Exome+® platform.
Turnaround
6-21 days
Requery (SOQO)
≤ 5 days
Genes Tested
66
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.
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Contact our clinical team to order this panel or learn more.
Indications for Testing
A personal or family history suggestive of a hereditary form of dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.
Methodology
This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with hereditary forms of dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.
Technical Specifications
Analytical sensitivity (SNV)
> 99%
Analytical sensitivity (indel)
> 99%
Analytical specificity
> 99%
CNV sensitivity (multi-exon)
> 99%
CNV sensitivity (single-exon)
> 90%
Gene notes
ALPK3: Sensitivity in exon 1 may be reduced. CDH2: Sensitivity in exon 1 may be reduced. DMD: Evaluation of chrX:33174335 (c.31+36947G>A), chrX:31261663 (c.9225-647A>G), and chrX:31261301 (c.9225-285A>G) will be performed. FKTN: Evaluation of chr9:105606576 (c.648-1243G>T) will be performed. GAA: Evaluation of chr17:80104542 (c.-32-13T>G), chr17:80104552 (c.-32-3C>A), chr17:80104554 (c.-32-1G>C), and chr17:80108467 (c.1076-22T>G) will be performed. GLA: Evaluation of chrX: 101399747 (c.640-801G>A) will be performed. MYBPC3: Evaluation of chr11:47332275-47332299 (c.3628-41_2628-17del25), chr11:47347065 (c.906-36G>A), chr11:47346372 (c.927-2A>G), chr11:47343281 (c.1224-19G>A), chr11:47343314 (c.1224-52G>A), chr11:47343158 (c.1227-13G>A), and chr11:47340403 (c.1927+600C>T) will be performed. PRDM16: Analysis for exon 1 will not be performed. SLC22A5: Evaluation of chr5:132369824 (c.-149G>A), chr5:132378362 (c.394-16T>A), and chr5:132386973 (c.825-52G>A) will be performed. TTN: Analysis for exons 172 to 197 will not be performed.
Genomic build
GRCh38
Genes Tested
66 genes included in this panel
Ordering Information
Turnaround Time
Typically 6-21 days (standard), Typically ≤ 5 days (requery)
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.
Clinical 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 66 genes associated with hereditary forms of dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.
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Contact our clinical team to order the Dilated Cardiomyopathy Panel for your patients.