Transgenomic Launches Most Comprehensive Genetic Test for Diagnosis of Leukodystrophy
New Test is Most Comprehensive for Definitive Diagnosis of These Devastating Genetic Disorders
Business Wire Transgenomic, Inc.
OMAHA, Neb.--(BUSINESS WIRE)--
Transgenomic, Inc. (TBIO), a global biotechnology company advancing precision medicine through advanced diagnostic tests and clinical and research services, today announced the launch of the Transgenomic Leukodystrophy NGS Panel for the diagnosis of leukodystrophy, a group of rare progressive genetic disorders that affect the central nervous system by disrupting the growth or maintenance of the myelin sheath insulating nerve cells.
Leukodystrophies have typically been difficult to diagnose, with definitive diagnoses taking years of testing. Previously, brain MRI scans were commonly used, but often provided non-specific results. With the advent of improved genetic testing methods, the Global Leukodystrophy Initiative (GLIA) Consortium has issued diagnostic guidelines that recommend use of a broad spectrum next-generation sequencing (NGS) panel, whole exome sequencing, or whole genome sequencing as the preferred first-line diagnostic tool. The new Transgenomic Leukodystrophy NGS Panel includes 137 genes and incorporates all of the genes GLIA recommends for testing. As the most comprehensive test on the market, it can potentially make definitive diagnoses accessible to patients and their families much earlier in the disease process.
“Leukodystrophy comprises a group of devastating genetic diseases that have been difficult to diagnose and almost impossible to treat,” said Paul Kinnon, President and Chief Executive Officer of Transgenomic. “We accordingly are very pleased to launch our Leukodystrophy NGS Panel, the most comprehensive genetic test for these conditions available today. By enabling clinicians to pinpoint the genetic source of the disorder earlier in the disease, we hope the Leukodystrophy NGS Panel will enable better disease management and facilitate the development of more effective therapies using new technologies, such as stem cells or gene editing techniques. This new test is another example of our commitment to harnessing advanced genetic tools to improve the lives of patients and families.”
The leukodystrophies are a group of about 40 inherited conditions in which the white matter of the brain is abnormal as a result of altered development or degeneration of the myelin sheath, the fatty covering that protects neurons. The condition results in progressive loss of neurologic function. Leukodystrophies often appear during infancy or early childhood, although the disease occasionally first manifests in adults. Diagnosis has typically been made by brain MRI, but many of the findings are non-specific. Most leukodystrophies result in progressive disability and death, often in childhood. Bone marrow transplantation is being performed for a few leukodystrophies, but current treatment is primarily supportive.
Robert Rauner, President of the United Leukodystrophy Foundation, commented, “On average it can take up to a decade to arrive at a definitive diagnosis for a leukodystrophy. Transgenomic’s genetic testing panel may help affected individuals arrive at a definitive diagnosis earlier to guide patient management decisions. This is very positive for those affected by leukodystrophy.”
