Hypertrophic Cardiomyopathy (HCM)

Introduction

We simultaneously sequence 22 genes known to cause inherited hypertophic cardiomyopathy. We provide a comprehensive scientific interpretation of variants found and issue a report summarising our findings.

Referral information

For individuals with clinical features and investigations consistent with published criteria for familial hypertophic cardiomyopathy (Journal of the American College of Cardiology 2011;58:2703-2738). On identification of a pathogenic change in an index case presymptomatic testing of relatives can be offered. Referrals for testing are only accepted from a Consultant Cardiologist or a Consultant Clinical Geneticist (please contact the Clinical Genetics department for specific information). Referrals should be accompanied by a clinical diagnosis and details of family history. Referrals should also be accompanied by a completed standard referral form available in the Referral Forms section. For optimal results please send a fresh EDTA blood sample (1-4ml) or a minimum of 5µg of extracted DNA. For a full list of genes included in the assay please contact the laboratory.

Technical information

Genes are tested by next generation sequencing (more information is available on request). We undertake a complete scientific analysis to highlight variants with a high likelihood of pathogenicity which are subsequently confirmed using conventional Sanger sequencing. On completion of the analysis a report is issued incorporating a clinical interpretation of all pathogenic mutations identified. In addition a technical report is made available to referrers summarising the coverage of the analysis and incorporating a full list of (non-validated) variants.

Price & reporting times

Please contact the laboratory for prices.

Test Price (NHS) Price (non-NHS) TRT
Hypertrophic Cardiomyopathy (22 gene) panel POA POA 112cd
Bioinformatic Re-analysis POA POA

Test validation & quality assurance - information for users

The laboratory is UKAS assessed against ISO 15189 standards.

Sample requirements

4ml EDTA blood sample

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 102540, 600824, 300163, 600958, 160710, 160760, 160781, 160790, 606566, 613121, 172405, 602743, 309060, 103220, 604488, 191040, 191044, 191045, 191010, 188840, 193065, 300644

Gene(s) - ACTC1, CSRP3, FHL1, GLA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, NEXN, PLN, PRKAG2, LAMP2, SLC25A4, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL

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