PerkinElmer Launches New Genetic Test for FSHD Type 1

PerkinElmer Genomics has launched a new test that is able to accurately detect the shortening of the D4Z4 gene region which causes facioscapulohumeral muscular dystrophy (FSHD) type 1.  FSHD affects approximately one in 10,000 to one in…

Saphyr System to Aid GeneDx in Detecting Mutations Causing Various Muscular Dystrophies

GeneDx has chosen Bionano Genomics’ technology, called Saphyr System, to aid in developing tests to detect mutations in genes that are associated with different forms of muscular dystrophy and other disorders. Saphyr is a whole-genome imaging technology that uses advanced optics combined with mathematical…