Hypertrophic cardiomyopathy (MYBPC3, MYH7, TNNT2, TNNI3)

Contact details Introduction Regional Genetics Service Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease characterised Levels 4-6, Barclay House by unexplained hypertrophy of the left ventricle and is one of the leading causes of 37 Queen Square premature sudden death in young adults (especially between 10 and 30 years). The London, WC1N 3BH disease is mainly caused by pathogenic variants in genes encoding protein T +44 (0) 20 7762 6888 components of the cardiac sarcomere. There is a wide heterogeneity with at least F +44 (0) 20 7813 8578 fourteen genes responsible for HCM. There is also a variation in expressivity and penetrance. Samples required Referrals  5ml venous blood in plastic EDTA bottles (>1ml from neonates)  Predictive testing is available for family members in whom the causative pathogenic variant has been confirmed in a UKAS accredited laboratory.  Prenatal testing must be arranged in advance, through a Clinical  Confirmatory testing can be carried out for patients in whom a pathogenic variant Genetics department if possible. has been detected in a research laboratory.  Amniotic fluid or CV samples should be sent to Cytogenetics for Prenatal testing dissecting and culturing, with instructions to forward the sample Prenatal testing is available for families in whom specific pathogenic variants have to the Regional Molecular Genetics been identified or in whom appropriate family studies have been undertaken; please laboratory for analysis contact the laboratory to discuss.  A completed DNA request card should accompany all samples Service offered Predictive and confirmatory testing can be offered to families where a pathogenic Patient details variant has been identified in the MYBPC3, MYH7, TNNT2 or TNNI3 genes. To facilitate accurate testing and reporting please provide patient Technical demographic details (full name, date of birth, address and ethnic origin), details Testing is carried out by direct sequencing analysis. of any relevant family history and full contact details for the referring clinician Target reporting time The turn around time for familial testing (including predictive tests) is 4 weeks. Please contact the laboratory for urgent cases.

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