The Adellgene® Myotonic Dystrophy Screening assay detects the number of CTG triplet repeats in the 3 untranslated region of the DMPK gene located on chromosome 19 as an in vitro diagnostic. The technology is based on the polymerase chain reaction (PCR: polymerase chain reaction) of extracted genomic DNA and purified from peripheral blood followed by fluorescence analysis.
Myotonic dystrophy, also known as Steinert’s disease, is the most common form of muscular dystrophy found in adults currently. Those with myotonic dystrophy have issues characterized by weakness and wasting of the muscles. The term “Myotonia” comes from the prolonged muscle contractions and inability to relax, a frequent symptom of myotonic dystrophy. Though the severity of the illness varies, the symptoms generally begin in a persons twenties to thirties. These symptoms are organized into type 1 and type 2 myotonic dystrophy, which is largely to do with the areas chiefly affected by the illness.
This assay is available in 16 tests size.