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HelpTest ID PEPAN Comprehensive Peripheral Neuropathy 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
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)
Useful For
Establishing a molecular diagnosis for patients with peripheral neuropathy
Identifying variants within genes known to be associated with peripheral neuropathy, allowing for predictive testing of at-risk family members
Special Instructions
- Informed Consent for Genetic Testing
- Hereditary Peripheral Neuropathy Diagnostic Algorithm
- Molecular Genetics: Neurology Patient Information
- Neuromuscular Myopathy Testing Algorithm
- Informed Consent for Genetic Testing (Spanish)
- Targeted Genes and Methodology Details for Comprehensive Peripheral Neuropathy Gene Panel
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
Peripheral Neuropathy Gene PanelSpecimen Type
VariesSpecimen 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
Varies
Report Available
28 to 42 daysPerforming 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
81448
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PEPAN | Peripheral Neuropathy Gene Panel | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617689 | Test Description | 62364-5 |
| 617690 | Specimen | 31208-2 |
| 617691 | Source | 31208-2 |
| 617692 | Result Summary | 50397-9 |
| 617693 | Result | 82939-0 |
| 617694 | Interpretation | 69047-9 |
| 618189 | Additional Results | In Process |
| 617695 | Resources | 99622-3 |
| 617696 | Additional Information | 48767-8 |
| 617697 | Method | 85069-3 |
| 617698 | Genes Analyzed | 48018-6 |
| 617699 | Disclaimer | 62364-5 |
| 617700 | Released By | 18771-6 |
Testing Algorithm
The following algorithms are available: