Mayo Clinic Laboratories > Neurology > Neurogenetics > Hereditary neuromuscular disorders

Hereditary Neuromuscular disorders

A phenotypic-directed testing approach

Mayo Clinic Laboratories’ distinctive approach to evaluating for inherited neuromuscular disorders uses phenotypic information to streamline diagnosis. Phenotype-specific panels enable targeted testing, improving diagnosis and minimizing uncertain results.

Our robust suite of genetic testing for inherited neuromuscular disorders includes both comprehensive and targeted next-generation sequencing (NGS) panels. Developed by an integrated team of clinicians, geneticists, and laboratory testing experts, our panels only include clinically relevant genes identified in literature and recommended in numerous professional clinical treatment guidelines. Use of NGS enables full gene coverage on all included genes and provides high sensitivity for the detection of both small and copy number variants.

215

215 genes in our comprehensive panel

16

16 focused neurogenetic panels

4

4 single-gene evaluations

Biochemical testing Biochemical testing
Biochemical testing

In cases of uncertain genetic findings, biochemical neuromuscular testing can be helpful. Correlating biochemical laboratory results with the clinical presentation and other test results can confirm suspicion of disease presence.

Custom gene ordering Custom gene ordering
Custom gene ordering

In instances when established test offerings do not meet your patients’ needs, custom gene ordering is available to explore potential genetic causes for a patient’s phenotype or to characterize an identified abnormality. Including curation of unique panels, adding genes or removing them from established panels, and single- gene ordering, our tailored approach to testing ensures patients receive the right test. In addition, genetic counselors are available to consult on testing appropriateness.

Muscular dystrophy Muscular dystrophy
Muscular dystrophy

Including comprehensive and focused panels as well as single-gene analysis, our muscular dystrophy testing uses NGS to achieve full gene coverage, including both single nucleotide and copy number variations, to confirm and clarify diagnosis.

Neuromuscular panel Neuromuscular panel
Neuromuscular panel

Our 215-gene panel uses NGS to identify variations within genes known for their associations with neuromuscular disorders and allows for predictive testing of at-risk family members.

Other neuromuscular disorders Other neuromuscular disorders
Other neuromuscular disorders

We offer a full suite of comprehensive and focused genetic evaluations that span the array of neuromuscular illnesses. Among our offerings are evaluations for hyperexcitable muscle disease; motor neuron diseases, such as amyotrophic lateral sclerosis, frontotemporal dementia, and spinal muscular atrophy; myopathy; and disorders associated with the neuromuscular junction, including congenital myasthenic syndromes and limb-girdle muscular dystrophy.

A new standard of testing for hereditary movement disorders

Mayo Clinic’s board-certified laboratory directors, in collaboration with clinical neurologists, pathologists, and genetic counselors, provide the highest standard of testing for hereditary neuromuscular disorders. In instances of inconclusive skin, nerve, or muscle pathological evaluations, molecular genetic testing can identify variants for hereditary neuromuscular disorders. All detected variants are evaluated based on American College of Medical Genetics and Genomics recommendations.

Genetic counselors add value to proper test utilization by assisting with case review and coordination to ensure the most appropriate test is ordered. On average, genetic counselors modify 12% of all reviewed genetic test orders,1 reducing costs and enhancing patient care. Test results are reported with interpretive comments detailing the potential or known significance of detected variants.

News and updates

The latest

Neuromuscular gene panel provides comprehensive analysis: Zhiyv (Neal) Niu, Ph.D., and Christopher Klein, M.D.

Zhiyv (Neal) Niu, Ph.D., and Christopher Klein, M.D., explain how Mayo Clinic Laboratories' updated neuromuscular gene panel informs diagnosis and treatment. The phenotype-based panel covers the complete list of neuromuscular genes and their variants.

Learn more
Myasthenia Gravis [Test in Focus]

Christopher Klein, M.D., discusses Mayo Clinic’s updated myasthenia gravis and Lambert-Eaton syndrome testing approach. Automatic reflex to second-line testing saves time and increases sensitivity and specificity to confirm diagnosis in patients with atypical presentation.

Improved Diagnosis of Necrotizing Autoimmune Myopathy by Combinatorial Immune Assays

This “Specialty Testing” webinar will discuss the diagnosis, pathological understanding, and current best treatment options for necrotizing autoimmune myopathy.

References
  1. Internal Mayo Clinic data.
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