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Test Code NMPAN Neuromuscular Genetic Panels by Next-Generation Sequencing (NGS), Varies

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Necessary Information

The specific neuromuscular panel requested must be provided in order to perform this test.

Specimen Required

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.


Preferred: 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 specimen in original tube.

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.


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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Neurology Patient Information in Special Instructions

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

Useful For

Establishing a diagnosis of a neuromuscular disorder associated with known causal genes


Serving as a second-tier test for patients in whom previous targeted gene mutation analyses for specific inherited neuromuscular disorder-related genes were negative


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

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR)/qPCR, Sanger Sequencing/or Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

Neuromuscular Genetic Panels

Specimen Type


Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)

Reference Values

An interpretive report will be provided.

Day(s) Performed


Report Available

8 to 12 weeks

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.

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NMPAN Neuromuscular Genetic Panels In Process


Result ID Test Result Name Result LOINC Value
37980 Client Provided Sub-Panel 19145-2
MG119 Gene List ID or NA 48018-6
37981 Result Summary 50397-9
37982 Result 82939-0
37983 Interpretation 69047-9
37984 Additional Information 48767-8
37989 Method 85069-3
37990 Disclaimer 62364-5
37986 Specimen 31208-2
37987 Source 31208-2
37988 Released By 18771-6

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_G090 Motor Neuron Disease Panel No, (Bill Only) No
_G091 Muscular Dystrophy Panel No, (Bill Only) No
_G092 Myofibrillar Myopathy Panel No, (Bill Only) No
_G093 Congenital Myopathy Panel No, (Bill Only) No
_G094 Congenital Myasthenic Syndromes No, (Bill Only) No
_G095 Metabolic Myopathy Panel No, (Bill Only) No
_G096 Emery-Dreifuss Panel No, (Bill Only) No
_G097 Distal Myopathy Panel No, (Bill Only) No
_G098 Skeletal Muscle Channelopathy Panel No, (Bill Only) No
_G099 Myopathy Expanded Panel No, (Bill Only) No
_G100 Distal Weakness Expanded Panel No, (Bill Only) No
_G101 Rhabdomyolysis and Myopathy Panel No, (Bill Only) No
G145 Hereditary Custom Gene Panel Tier 1 No, (Bill Only) No
G146 Hereditary Custom Gene Panel Tier 2 No, (Bill Only) No
G147 Hereditary Custom Gene Panel Tier 3 No, (Bill Only) No
G148 Hereditary Custom Gene Panel Tier 4 No, (Bill Only) No
G149 Hereditary Custom Gene Panel Tier 5 No, (Bill Only) No

CPT Code Information



CPT code

Myopathy Expanded Panel



Muscular Dystrophy Panel



Congenital Myopathy Panel



Metabolic Myopathy Pane



Myofibrillar Myopathy Panel


81404, 81405 x 2, 81406, 81479

Distal Myopathy Panel



Emery-Dreifuss Panel


81404, 81405 x 2, 81406, 81479

Rhabdomyolysis and Myopathy Panel



Distal Weakness Expanded Panel



Motor Neuron Disease Panel



Congenital Myasthenic Syndromes Panel



Skeletal Muscle Channelopathy Panel


81403, 81406 x 2, 81479

Testing Algorithm

This test includes the option for either 1 of several predefined panel tests or the option to create a custom gene panel. Pricing for the Custom Gene Panel will be based on the number of genes selected (1, 2-14, 15-49, 50-100, and 101-500).


The following algorithms are available in Special Instructions:

-Inherited Motor Neuron Disease Testing Algorithm

-Neuromuscular Myopathy Testing Algorithm