March 17, 2022 – Diseases that affect the body nervous system Possibly some of the most difficult conditions for doctors to diagnose.
Many conditions can cause similar symptoms, but two people with the same condition can have different symptoms, which can make it difficult to pinpoint the cause of the symptoms. Delays in diagnosing the condition mean people go on longer without the treatment they need.
But now, a new DNA test More than 50 genetic disorders affecting the nervous system are being addressed.
Collectively, these disorders are called short tandem repeat expansion disorders, which means that very long DNA sequences that are repeated over and over in a person’s genes can cause problems.
The new test uses a technique called nanopore sequencing, which scans a patient’s DNA for 37 genes known to be involved in short tandem repeat expansion disorder. When the test finds genes, it checks to see if they are part of these long repeats, and what those sequences are. This can determine the condition of the person.
Although none of these conditions can be cured, early diagnosis helps patients prepare for future symptoms and helps doctors manage complications.
Before this test, doctors and patients had to rely on less accurate tests.
The new method costs less than $750 and uses about the same technology as a stapler. It can also identify new repeats, which could lead to discoveries we didn’t know existed.