Neuromuscular gene panel provides comprehensive analysis

Answers from the Lab

Neuromuscular disorder is an umbrella term covering many conditions linked to multiple genetic mutations. In this test-specific episode of the "Answers From the Lab" podcast, Zhiyv (Neal) Niu, Ph.D., and Christopher Klein, M.D., explain how Mayo Clinic Laboratories' updated neuromuscular gene panel informs precise diagnosis for optimal patient care.

"The neuromuscular gene panel offers a more comprehensive phenotype analysis than other tests on the market," Dr. Niu says. "We analyze 217 genes — the most complete list of neuromuscular genes and their mutations — to detect single nucleotide variants, insertion deletions, and copy number events."

The phenotype-based test design draws on the expertise of Mayo Clinic neurologists.

"Our clinical experience has highlighted the range of genotype-phenotype correlation," Dr. Klein says. "The completeness and accuracy of this panel allows us to avoid mistakes in our diagnoses and guide patients to treatment options that weren't available in the past."

Listen to learn more about Mayo Clinic Laboratories' updated neuromuscular gene panel.

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Useful information

Establishing a molecular diagnosis for patients with a neuromuscular disorder.

Identifying variants within genes known to be associated with neuromuscular disorders allowing for predictive testing of at-risk family members.

Specimen requirements

  • Specimen Type: Whole Blood
  • Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
  • Container/Tube: Lavender top (EDTA) or yellow top (ACD)


  • Any anticoagulant
  • Specimen Volume: 3 mL
  • Collection Instructions:
    1. Invert several times to mix blood.
    2. Send whole blood specimen in original tube. Do not aliquot.
  • Specimen Stability Information: Ambient (preferred)/Refrigerated

Additional Information: If a cord blood specimen is received, MATCC / Maternal Cell Contamination, Molecular Analysis, Varies will be performed at an additional charge; maternal blood sample is required.

Performance information

Analytic time: 28 to 42 days

Days performed: Varies

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Barbara J. Toman

Barbara J. Toman is a Senior Communications Specialist at Mayo Clinic Laboratories. She is also the science writer for Mayo’s Neurosciences Update newsletter, which helps referring physicians to stay informed about Mayo’s treatment and research. Barbara has worked at Mayo Clinic since 2007. She enjoys international travel and cooking.