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.
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|
Test validation & quality assurance - information for users
4ml EDTA blood sample
Please see our referral guidelines for more information.
Gene(s) - ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2, SKI