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Test Code MUPAN Comprehensive Neuromuscular Gene Panel, Varies


Ordering Guidance


Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH/ Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


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.

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Acceptable: 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


Forms

1. New York Clients-Informed consent is required.

Document on the request form or electronic order that a copy is on file.

The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Neurology Patient Information

3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.

Useful For

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

Method Name

Sequence Capture and Next-Generation Sequencing (NGS), Polymerase Chain Reaction (PCR), Sanger Sequencing, and Dosage Analysis by Droplet Digital Polymerase Chain Reaction (ddPCR)

Reporting Name

Neuromuscular Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

Neuromuscular disorders are a heterogeneous group of diseases that arise from nerve, muscle, or neuromuscular junction dysfunction. Onset ranges from in utero to old age, but mostly they affect infants, children, and teenagers. While some neuromuscular disorders are acquired, the vast majority are genetic. Diagnosis of neuromuscular disorders involves clinical presentation, electromyography , muscle and nerve biopsy, and biochemical and genetic testing. This panel includes genes associated with muscular dystrophy, myopathy, rhabdomyolysis, congenital myasthenic syndrome, and skeletal muscular channelopathy disorders.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

28 to 42 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81443