What diseases can be detected with this test?
With this new test, diseases such as Huntington’s, Fragile X Syndrome, hereditary cerebellar ataxias, myoclonic epilepsies and amyotrophic lateral sclerodis, mainly, can be detected.
Dr. Kishore Kumar, who led the study of the test, assured that it has the potential to reduce uncertainty among patients and their families in order to have an accurate diagnosis.
Patients using these tests can save years of unnecessary muscle or nerve biopsies for misdiagnosed diseases they don’t have, plus they can stop using unnecessary treatments that suppress their immune systems.