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HelpTest Code MIMAY-;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.
Container/Tube:
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.
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 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
Special Instructions
- Informed Consent for Genetic Testing
- Molecular Genetics: Neurology Patient Information
- Targeted Genes and Methodology Details for Neuromuscular Genetic Panels
- Inherited Motor Neuron Disease Testing Algorithm
- Frequently Asked Questions: Custom Gene Ordering Tool
- Neuromuscular Myopathy Testing Algorithm
- Custom Gene Panel Ordering
- Informed Consent for Genetic Testing (Spanish)
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 PanelsSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Reject Due To
All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Performed weekly; Varies
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 U.S. 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 | 49549-9 |
| 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
81325 (if appropriate)
81403 (if appropriate)
81404 (if appropriate)
81405 (if appropriate)
81406 (if appropriate)
81407 (if appropriate)
81408 (if appropriate)
81443 (if appropriate)
81479 (if appropriate)
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: