Aortic Aneurysm

Introduction

We simultaneously sequence 10 genes known to cause inherited aortic aneurysm. We provide a comprehensive scientific interpretation of the variants found, and issue a report summarising our findings.

Referral information

For individuals diagnosed with thoracic aortic aneurysm with no evidence of vascular disease or other known (non-genetic) aetiology. 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
Aortic Aneurysm (10 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) - 607086, 102620, 120180, 134797, 160745, 600922, 603109, 190220, 190181, 190182, 164780

Gene(s) - ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2, SKI

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