The new DNA test can detect 50 rare genetic disorders

A new DNA test can accurately identify a series of neurological and neuromuscular diseases that are difficult to diagnose faster and more precisely than currently available diagnostics, said researchers at Australia's Institute of Medical Research “Gavan”. Diseases that can be identified through the test belong to [...]
A new DNA test can accurately identify a series of neurological and neuromuscular diseases that are difficult to diagnose faster and more precisely than currently available diagnostics, said researchers at Australia's Institute of Medical Research “Gavan”.
Diseases that can be identified through the test belong to a class of more than 50 diseases caused by extremely long and repeated DNA sequences in one person's genes and are known as short - term expansion disorders, said researchers in the article “Science”
Examples of disorders include rare diseases such as Huntington's disease, fragile X syndrome, cerbeleral legacies, miotonic dystrophies, myocleans, and motor neurons' diseases, including amiotrophic side sclerosis or Lou Gehrig disease.
The new test analyzes DNA in collected blood samples to detect the repeated sequences of expansion caused by disease, according to researchers.
It functions by scanning a patient's genome using a technology called nanopare sequences, researchers said.
The test could also help “potentially detect new sequences that could be included in diseases that have not yet been described”, he said.
The disorders of repeated brief expansion pass through families and may be life - threatening, according to the National Organisation for Root Disorders.












