A test capable of detecting 50 different genetic diseases

Australian researchers have developed a new DNA test that can detect a large number of genetic diseases both faster and more accurately.

These are degenerative diseases, such as muscle diseases, but also disorders affecting something like balance and certain forms of epilepsy. Huntington’s disease is one of the best known on the list. Some diseases are rare, others more common, but they have in common that they are caused by unusually long DNA sequences in a person’s genes. Some kind of stutter in the DNA.

Now – because symptoms often don’t directly indicate a clear disease – it can take a long time to find out which of these diseases is involved in a person. It can take years, sometimes even decades. During this period, someone lives in great uncertainty and does not receive the right medicines. With the new test it is a matter of days and can therefore be tested for 50 diseases in one go.

In this audio you can hear neurologist Kishore Kumar from Concord Hospital in Australia. Learn more here: Single test for more than 50 genetic diseases will reduce diagnosis from decades to days† The paper can be found here: Comprehensive Genetic Diagnosis of Tandem Repeat Expansion Disorders with Programmable Targeted Nanopore Sequencing†