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Test ID 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 Mutation, 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


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

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


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) Performed


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. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
MUPAN Neuromuscular Gene Panel In Process


Result ID Test Result Name Result LOINC Value
617663 Test Description 62364-5
617664 Specimen 31208-2
617665 Source 31208-2
617666 Result Summary 50397-9
617667 Result 82939-0
617668 Interpretation 69047-9
618187 Additional Results In Process
617669 Resources 99622-3
617670 Additional Information 48767-8
617671 Method 85069-3
617672 Genes Analyzed 48018-6
617673 Disclaimer 62364-5
617674 Released By 18771-6

Testing Algorithm

For more information see Neuromuscular Myopathy Testing Algorithm