Dyskeratosis Congenita (DC) and other Telomere Biology Disorders result in premature shortening of the telomeres and tests for telomere length are important to make a diagnosis. Accurate telomere length testing can be difficult, but scientists are making promising advances in this area.
Researchers at Cardiff University and Queen Mary University of London have developed a rapid test for the diagnosis of numerous rare genetic conditions, including DC. The test, called STELA, performs as well as the current ‘gold standard’ test and has been shown to be helpful in diagnosis of DC and Telomere Biology Disorders.
Previously, for ‘gold standard’ testing, samples would have to be couriered overseas to specialist labs. Professor Duncan Baird’s team at Cardiff University are now offering a new test that can be done in the UK on a routine blood sample, sent by standard laboratory transport.
For more information on this exciting new development, you can read the full article here: https://www.cardiff.ac.uk/news/view/2507561-scientists-develop-rapid-test-for-diagnosis-of-rare-set-of-genetic-conditions.