A test that can detect 50 different genetic diseases

Australian researchers have developed a new DNA test that can detect a large number of genetic diseases at once with greater speed and accuracy.

It concerns degenerative diseases, such as muscle diseases, but also disorders that affect something like balance and some forms of epilepsy. Huntington’s disease is one of the most well-known diseases on the list. Some diseases are rare, some are more common, but they have a common denominator that they are caused by unusually long DNA sequences in a person’s genes. A kind of DNA stutter.

Now—since symptoms often do not directly point to a single, obvious disease—it may take a long time before it is discovered which of these ailments are involved in a person. This process can take years, sometimes decades. During that period, a person lives in a state of great uncertainty and does not receive the appropriate medications. With the new test, it takes days and thus can be tested for 50 diseases at once.

In this audio you can hear Neurologist Kishore Kumar from Concord Hospital in Australia. Read more here: A single test for more than 50 genetic diseases will cut diagnosis from decades to days. The paper can be found here: Comprehensive Genetic Diagnosis of Tandem Repeated Expansion Disorders with Programmable Targeted Nano Sequencing.