Genetic Test Evaluation

understanding how genetic tests impact patient management

Invitae Comprehensive Neuromuscular Disorders Panel

December 7, 2017

Neuromuscular disorders comprise multiple conditions affecting the skeletal muscle that, as a group, are commonly encountered. These disorders are characterized by variable onset, prognosis, and pathology, with clinical features that may overlap, making diagnosis difficult. Many of these conditions have a genetic cause that can involve the anterior horn cell, peripheral nerve, muscle, or neuromuscular junction. The end result is impaired muscle function and related complications that can impact other organ systems. Currently, therapeutic strategies are being developed based on the underlying cause of the neuromuscular disorder with the aim of reducing patient morbidity and mortality. Genetic testing panels have been developed that investigate the many genes associated with these variable disorders. One such test is the Invitae Comprehensive Neuromuscular Disorders Panel. This report focuses specifically on this 1 test and does not evaluate the evidence for neuromuscular gene panel testing, in general, or specific gene associations.