Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: NPPAN
Peripheral Neuropathy Genetic Panels, Next-Generation Sequencing (NGS), Blood
Testing Algorithm 
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
This test includes the option for either one 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, 2-4, 5-14, 15-49, 50-100, and 101-500). See Custom Gene Panel Ordering in Special Instructions.
See Hereditary Peripheral Neuropathy Diagnostic Algorithm in Special Instructions.
Specimen Type Describes the specimen type validated for testing
Ordering Guidance
The recommended first-tier test to screen for hereditary motor and sensory neuropathy is PMPDD / PMP22 Gene, Large Deletion and Duplication Analysis, Varies, which assesses for large deletions and duplications of the PMP22 gene.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required Defines the optimal specimen required to perform the test and the preferred volume to complete testing
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:
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. Do not aliquot.
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.
Special Instructions Library of PDFs including pertinent information and forms related to the test
- Informed Consent for Genetic Testing
- Hereditary Peripheral Neuropathy Diagnostic Algorithm
- Molecular Genetics: Neurology Patient Information
- Frequently Asked Questions: Custom Gene Ordering Tool
- Custom Gene Panel Ordering
- Informed Consent for Genetic Testing (Spanish)
- Targeted Genes and Methodology Details for Peripheral Neuropathy Gene Panels
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.
Specimen Minimum Volume Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||