Transgenomic CMT NGS Panel
Transgenomic has launched its CMT NGS Panel for the diagnosis of Charcot-Marie-Tooth peripheral neuropathies. CMT neuropathies comprise a group of genetic disorders that affect peripheral nerves and are considered part of the muscular dystrophy family. There is considerable varability in the large number of genetic mutations associated with CMT, so Transgenomic designed its panel to test for all 36 reported CMT disease-causing genes, the company said. However, studies have also shown that a majority of patients have mutations in a single gene, making a sequential approach to CMT testing economical and efficient, the company noted. As such, Transgenomic is also offering CMT Reflex Analysis, which comprises first-tier testing of commonly occurring PMP22 deletions/duplications. If these come back negative, then all 36 reported CMT dosease-causing genes are sequenced, Transgenomic said.