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Test ID NPPAN Peripheral Neuropathy Genetic Panels, Next-Generation Sequencing (NGS), Blood


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


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.


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

Diagnosis of inherited peripheral neuropathies associated with known causal genes

 

Serving as a second-tier test for patients in whom previous targeted gene variant analyses for specific inherited peripheral neuropathy-related genes were negative

 

Identifying variants within genes known to be associated with inherited peripheral neuropathy, allowing for predictive testing of at-risk family members

Genetics Test Information

This ordered service includes the option for one of several peripheral neuropathy related panel tests to be performed. The specific peripheral neuropathy panel requested must be provided in order to perform this test. Testing options include the following:

 

-Hereditary Motor Neuropathy Panel (23 genes)

-Hereditary Sensory Neuropathy Panel (18 genes)

-Metabolic or Syndromic Neuropathies (74 genes)

-Motor and Sensory Neuropathy Panel (82 genes)

-Peripheral Neuropathy Expanded Panel (193 genes)

-SEPT9 Gene, Full Gene Analysis (1 gene)

-Spastic Paraplegia Neuropathy Panel (41 genes)

-Custom Gene Panel (https://orders.mayocliniclabs.com/en/tools/gene_panels/)

-Custom Gene Ordering tutorial: https://vimeo.com/299737728/23d56922f1

See Frequently Asked Questions: Custom Gene Ordering Tool in Special Instructions.

 

See Targeted Genes and Methodology Details for Peripheral Neuropathy Gene Panels in Special Instructions for details regarding the targeted genes for each test.

 

*Related testing to neuromuscular conditions is available. See NMPAN / Neuromuscular Genetic Panels by Next-Generation Sequencing (NGS) for more information about neuromuscular testing.

Highlights

This test may aid in the diagnosis of inherited peripheral neuropathy

Disease States

  • Hereditary neuralgic amyotrophy

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_G103 Peripheral Neuropathy Expanded Panel No, (Bill Only) No
_G104 Motor and Sensory Neuropathy Panel No, (Bill Only) No
_G105 Hereditary Sensory Neuropathy Panel No, (Bill Only) No
_G106 Hereditary Motor Neuropathy Panel No, (Bill Only) No
_G107 Spastic Paraplegia Neuropathy Panel No, (Bill Only) No
_G108 Metabolic or Syndromic Neuropathies No, (Bill Only) No
_G132 SEPT9 Gene, Full Gene Analysis 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
G151 Custom Gene Panel(CPT 81448) Tier 2 No, (Bill Only) No
G152 Custom Gene Panel(CPT 81448) Tier 3 No, (Bill Only) No
G153 Custom Gene Panel(CPT 81448) Tier 4 No, (Bill Only) No
G154 Custom Gene Panel(CPT 81448) Tier 5 No, (Bill Only) No

Testing Algorithm

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.

Method Name

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

Reporting Name

Peripheral Neuropathy Gene Panels

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) Performed

Performed weekly

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.

CPT Code Information

81448 (if appropriate)

81405 (if appropriate)

81408 (if appropriate)

81407 (if appropriate)

81406 (if appropriate)

81479 (if appropriate)

81325 (if appropriate)

81403 (if appropriate)

81404 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NPPAN Peripheral Neuropathy Gene Panels In Process

 

Result ID Test Result Name Result LOINC Value
MG112 Client Provided Sub-Panel 19145-2
MG121 Gene List ID or NA 48018-6
38195 Result Summary 50397-9
38196 Result 38179-8
38197 Interpretation 69047-9
38198 Additional Information 48767-8
113190 Method 85069-3
113191 Disclaimer 62364-5
38199 Specimen 31208-2
38200 Source 31208-2
38201 Released By 18771-6

NY State Approved

Yes