Cardiomyopathy
Introduction
We simultaneously sequence 37 genes known to cause inherited cardiomyopathy. We provide a comprehensive scientific interpretation of variants found and issue a report summarising our findings.
Referral information
Testing of patients with a diagnosis and family history of cardiomyopathy; arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM) or hypertrophic cardiomyopathy (HCM). 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 |
| Cardiomyopathy (37 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) - 601439, 102540, 102573, 600824, 125645, 125671, 125660, 125647, 603550, 300163, 173325, 150330, 600958, 160760, 160781, 160790, 606566, 613121, 602861, 172405, 602743, 309060, 160710, 613171, 600163, 601411, 103220, 601017, 604488, 612048, 188380, 191040, 191044, 191045, 191010, 188840, 193065, 300644
Gene(s) - ABCC9, ACTC1, ACTN2, CSRP3, DSC2, DSG2, DES, DSP, EYA4, FHL1, JUP, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, NEXN, PKP2, PLN, PRKAG2, LAMP2, RBM20, SCN5A, SGCD, SLC25A4, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, GLA