Hypertrophic Cardiomyopathy Panel
A 47-gene panel for evaluating hereditary hypertrophic cardiomyopathy, powered by the Helix Exome+® platform for superior coverage of complex cardiac regions.
Turnaround
6-21 days
Requery (SOQO)
≤ 5 days
Genes Tested
47
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 hypertrophic 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 hypertrophic 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
AGL: Evaluation of chr1: 99916398 (c.4260-12A>G) will be performed. ALPK3: Sensitivity in exon 1 may be reduced. BRAF: Sensitivity in exon 1 may be reduced. 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. MAP2K2: Sensitivity in exon 1 may be reduced. 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. PRKAG2: Sensitivity in exon 5 may be reduced. SLC22A5: Evaluation of chr5:132369824 (c.-149G>A), chr5:132378362 (c.394-16T>A), and chr5:132386973 (c.825-52G>A) will be performed. SOS2: Sensitivity in exon 1 may be reduced.
Genomic build
GRCh38
Genes Tested
47 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 47 genes associated with hereditary forms of hypertrophic cardiomyopathy.
Ready to order this test?
Contact our clinical team to order the Hypertrophic Cardiomyopathy Panel for your patients.