Use

The Invitae Congenital Myopathy Panel analyzes genes associated with congenital myopathies, a heterogeneous group of neuromuscular conditions with variable symptom severity. Genetic testing with this panel can help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials. These myopathies are inherited disorders that usually present between the neonatal period and early childhood, primarily exhibiting symptoms like hypotonia and muscle weakness. The severity and specific symptoms can vary depending on the causative gene.