Transgenomic, Inc., a global biotechnology company advancing precision medicine through advanced diagnostic tests and clinical and research services, announced the launch of its CMT NGS Panel for the diagnosis of Charcot-Marie-Tooth (CMT) peripheral neuropathies.
CMT neuropathies, which comprise a group of inherited genetic disorders that affect peripheral nerves and are considered to be part of the muscular dystrophy family, are the most common genetic neuropathy, with a prevalence rate of 1 in 2,500. Onset of symptoms typically occurs around the age of 12, and CMT patients manifest a variety of potentially disabling symptoms.
There is considerable variability 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. However, studies have also shown that a majority of patients have mutations in a single gene, making a sequential approach to CMT testing both economical and efficient. Transgenomic has built its CMT Reflex Analysis to reflect these findings by offering the commonly-occurring PMP22 deletions/duplications as the first tier of testing. If these come back negative, then all 36 reported CMT disease-causing genes are sequenced.
Having a definitive diagnosis is useful for optimizing treatment options as well as for genetic counseling for future childbearing.
Transgenomic president and CEO Paul Kinnon commented, “Charcot-Marie-Tooth neuropathies are among the most common genetic disorders, so we are very pleased to announce the launch of our comprehensive new CMT NGS panel that is designed to be both economical and when needed, the most comprehensive on the market. Pediatric neurology genetic testing is a growing core competency and focus of our patient testing business unit. This new test is the most recent example of our commitment to leadership in the provision of state-of-the-art genetic testing for children with neurological disorders.”