Test Code: PNL036
Cardiomyopathy, hypertrophic (31 Genes)
CardioVascular Genetics
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy, affecting ~1 in 500 individuals worldwide. It is characterised by unexplained left ventricular hypertrophy with risks of heart failure, arrhythmias, and sudden cardiac death. HCM is primarily inherited in an autosomal dominant pattern, with >50% of cases having an identifiable genetic cause. Our 31-gene HCM panel analyses sarcomeric and sarcomere-associated genes, as well as genes for metabolic and infiltrative disorders that can mimic HCM, supporting accurate diagnosis, risk stratification, and family screening.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
31 genes
ACTC1
ACTN2
CALR3
CAV3
CSRP3
FLNC
GLA
JPH2
KLHL24
LAMP2
LDB3
MYBPC3
MYH6
MYH7
MYL2
MYL3
MYLK2
MYOZ2
MYPN
NEXN
PLN
PRKAG2
PTPN11
SLC25A4
TNNC1
TNNI3
TNNT2
TPM1
TTN
TTR
VCL
Methodology
Capture-based target enrichment and Next Generatio...
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