Molecular Autopsy

Introduction

We simultaneously sequence 61 genes known to cause inherited sudden unexplained cardiac death. We provide a comprehensive scientific interpretation of variants found and issue a report summarising our findings.

Referral information

Autopsy samples from individuals (<40 years) with ideopathic sudden unexplained cardiac death. On identification of a pathogenic change in an index case presymptomatic 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 minimum of 5µg of extracted DNA. If this is not possible please contact the laboratory prior to referring to discuss sample requirements. 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

Test Price (NHS) Price (non-NHS) TRT
Molecular Autopsy (61 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, 102620, 102540, 102573, 604001, 106410, 114205, 114204, 600003, 114180, 114251, 120180, 600824, 125660, 125645, 125671, 125647, 603550, 134797, 300163, 611778, 300644, 605206, 173325, 176261, 603796, 604433, 152427, 600681, 600734, 607542, 309060, 150330, 600958, 160745, 160710, 160760, 160781, 160790, 600922, 606566, 613121, 602861, 172405, 602743, 613171, 180902, 600235, 608214, 608256, 600163, 604427, 601411, 103220, 164780, 603109, 601017, 604488, 190220, 190181, 190182, 612048, 188380, 191040, 191044, 191045, 191010, 603283, 606936, 188840, 193065

Gene(s) - ABCC9, ACTC1, ACTN2, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CASQ2, CSRP3, DSC2, DSG2, DES, DSP, EYA4, FHL1, GLA, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, NEXN, PKP2, PLN, PRKAG2, LAMP2, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SCN10A, SGCD, SLC25A4, SNTA1, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, VCL

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