Also known as: Hereditary haemorrhagic telangiectasia, aortic valve disease, polycystic kidney disease, tortuosity of retinal arteries, Adams-Oliver syndrome, cutis laxa, arterial tortuosity syndrome.« Back to test list
Abnormalities of arteries, veins, or aortic valve are a feature of a number of autosomal dominant and autosomal recessive disorders.
Disorders with autosomal dominant inheritance include hereditary haemorrhagic telangiectasia, familial aortic valve disease, adult polycystic kidney disease, familial tortuosity of retinal arteries, and Adams-Oliver syndrome. Such disorders with autosomal recessive inheritance include cutis laxa (type 1b), and arterial tortuosity syndrome.
The diagnosis of a vasculopathy is made on the basis of clinical and radiological findings. Genetic testing is not necessary to make this diagnosis.
This test result has implications regarding the aetiology and inheritance of vasculopathy in an individual, and the risk of vasculopathy and related disorders in a patient’s relatives.
This is an assay for heritable mutations. It may raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient.
This test can assist in making a diagnosis in an affected patient. It may also provide useful risk information for unaffected relatives. Testing unaffected people to provide risk information may require that the clinician comply with guidelines provided by professional and regulatory authorities regarding pre-test counselling and consent. In particular, national regulations stipulate that carrier testing of an unaffected child requires the laboratory to have evidence of pre-test counselling by a genetics professional and written consent. For advice or assistance, please contact us on 1800 010 447.
A pathogenic mutation can be found in approximately 80% of patients with a familial vasculopathy.
In an affected person with a clinical diagnosis of a vasculopathy, the presence of a pathogenic mutation confirms the diagnosis and may provide additional information regarding the risk of cardiac and non-cardiac manifestations in relatives. However, the absence of a pathogenic mutation in such a patient does not exclude the diagnosis of a familial vasculopathy.
In an unaffected person from a family with confirmed genetic diagnosis of familial vasculopathy, the presence of the family’s mutation may indicate an increased risk of developing a vasculopathy, and close clinical follow-up may be warranted. The interpretation of such results depends on the particular gene and mutations. Pre-test genetic counselling is strongly recommended.
This test involves analysis of a number of genes. Details of this gene panel and potential incidental findings are summarized here.
Analysis of a gene panel for sequence abnormalities and deletions/duplications.
This test is provided by Bioscientia, a Sonic Healthcare laboratory in Germany. Bioscientia is accredited within Germany and by the College of American Pathology for the provision of medical genetic tests.
This test is usually requested by a cardiologist with experience in the genetic management of cardiac disease or a clinical geneticist.
2-5 mL blood in EDTA. Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We also recommend that the patient or another adult check the labelling of request forms and sample tubes.
Please include a statement about family history (or absence of family history) of the disease in clinical details on referral form. If family history is present, please state relationship to patient.