A new diagnostic service for ataxia

Ataxia UK funded a project to establish a new method of genetic testing for ataxia, called next-generation sequencing, and to help increase the number of people getting specific diagnoses. Dr Andrea Nemeth, Clinical Geneticist at the Oxford Specialist Ataxia Centre, has completed the project and developed a new genetic test using this technique. The test will assess in a single analysis a large number of genes that cause ataxia. At the moment, the test can look at 58 genes, but new ones will be added as they are reported by scientists in the medical literature. There is a particular focus on the rarer genes causing ataxia which are not usually tested for in routine NHS genetic tests.

We are pleased that the test developed in this research project has now been approved as a diagnostic service available on the NHS. This has followed validation by the Oxford Regional Genetics Laboratory. People with ataxia who have tested negative for all common ataxias can be referred to Oxford and get tested for these rarer ataxias. Referrals can only be accepted from clinical geneticists, neurologists and paediatric neurologists for patients who have had the standard testing for spinocerebellar ataxias 1, 2, 3, 6, 7, 17 and Friedreich’s ataxia. They should contact:

Dr Penny Clouston Principal Clinical Scientist/Deputy Head of Molecular Genetics Oxford University Hospitals NHS Trust Oxford Medical Genetics Laboratories The Churchill Hospital Old Road, Headington Oxford, OX3 7LE Tel: 01865 225 592 Email: [email protected]