Mayo Clinic Laboratories > Neurology > Neurogenetics > Hereditary neuromuscular disorders > Neuromuscular panel

neuromuscular panel

Faster answers through streamlined testing

The emergence of advanced molecular testing technologies has enhanced the detection of inherited neuromuscular disorders. However, diverse presentation and varying genetic causes of these conditions often lead to lengthy diagnostic journeys when traditional testing strategies are used. Genetic testing to achieve molecular diagnosis of neuromuscular disease is integral to optimized patient care.1

neuromuscular panel Test menu

Neuromuscular panel Neuromuscular panel

Neuromuscular panel

Our comprehensive panel analyzes 215 genes associated with inherited neuromuscular diseases, including muscular dystrophy, congenital myasthenic syndrome, and mitochondrial syndromes, among others.

Key testing

Advantages

  • Establishes diagnosis of a neuromuscular disorder associated with known causal genes.
  • Serves as second-tier testing for patients in whom previous targeted gene mutation analyses for specific inherited neuromuscular disorder-related genes were negative.
  • Identifies mutations within genes known to be associated with inherited neuromuscular disorders, allowing for predictive testing of at-risk family members.

Highlights

Neuropathy and Neuromuscular Gene Panel Update

In this month's "Hot Topic," Christopher Klein, M.D., and Zhiyv (Neal) Niu, Ph.D., discuss how Mayo Clinic’s neuropathy and neuromuscular gene panels have enhanced patient care.

Learn more
References
  1. Kassardjian C, Amato A, Boon A, Childers M, Klein C. AANEM Professional Practice Committee. The utility of genetic testing in neuromuscular disease: a consensus statement from the AANEM on the clinical utility of genetic testing in diagnosis of neuromuscular disease. Policy Department, American Association of Neuromuscular & Electrodiagnostic Medicine, Rochester, Minnesota, USA. Accepted 22 August 2016.
INTERESTED IN LEARNING MORE?

Fill out the form below and one of our specialists will be in touch.

(BETA) Choose a language to view this content in:
About the translation.