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HELIX DIAGNOSTICS

Hypertrophic Cardiomyopathy Panel


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 48 genes associated with hereditary forms of hypertrophic cardiomyopathy.

Genes Tested (48)

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ABCC9
ACADVL
ACTC1
ACTN2
AGL
ALPK3
BRAF
CPT2
CSRP3
ELAC2
FHL1
FLNC
GAA
GLA
HRAS
JPH2
KRAS
LAMP2
LZTR1
MAP2K1
MAP2K2
MRAS
MTO1
MYBPC3
MYH7
MYL2
MYL3
NEXN
NRAS
PLN
PPA2
PRKAG2
PTPN11
RAF1
RIT1
SHOC2
SLC22A5
SOS1
SOS2
TCAP
TMEM70
TNNC1
TNNI3
TNNT2
TPM1
TRIM63
TTR
VCL

Important Panel Information

Turnaround time: 7-24 days

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.

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