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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

Turnaround Requery

≤ 5 days

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.

This panel evaluates 47 genes associated with hereditary forms of hypertrophic cardiomyopathy.

View the complete description of this panel

Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

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 notesAGL: 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.-32-13... Genomic buildGRCh38

Genes Tested

ACAD9
ACADVL
ACTC1
ACTN2
AGL
ALPK3
BRAF
CPT2
CSRP3
ELAC2
FHL1
FLNC
GAA
GLA
HRAS
JPH2
KRAS
LAMP2
LZTR1
MAP2K1
MAP2K2
MRAS
MTO1
MYBPC3
MYH7

Showing 25 of 47 genes in this panel

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Important Panel Information

Turnaround time: Typically 7-21 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.

Hypertrophic Cardiomyopathy (HCM) is a condition in which the heart muscle becomes abnormally thick. This leads to a decrease in the heart's ability to pump blood effectively. This can cause fatigue, shortness of breath, swelling of the legs, heart rhythm abnormalities and, in severe cases, heart failure or sudden cardiac arrest. 

It is important to note that in some cases HCM may be a feature of a syndromic condition with other extracardiac findings. Hereditary forms of HCM may follow autosomal dominant, autosomal recessive, X-linked, or mitochondrial inheritance patterns. This panel does not assess mitochondrial causes of HCM. Note that some of these genes may also be associated with other unrelated conditions; this means that when undergoing this test, there is a possibility of incidentally detecting carrier status for, or predisposition to, one of these unrelated conditions.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.