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.

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

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