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.
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.
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|
Test validation & quality assurance - information for users
4ml EDTA blood sample
Please see our referral guidelines for more information.
Gene(s) - ACTC1, CSRP3, FHL1, GLA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, NEXN, PLN, PRKAG2, LAMP2, SLC25A4, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL