Test Catalog

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

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of inherited peripheral neuropathies associated with known causal genes

 

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

 

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
G145Hereditary Custom Gene Panel Tier 1No, (Bill Only)No
G146Hereditary Custom Gene Panel Tier 2No, (Bill Only)No

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 Hereditary Peripheral Neuropathies Testing Algorithm in Special Instructions

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

No

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Peripheral Neuropathy Gene Panels

Aliases Lists additional common names for a test, as an aid in searching

Charcot-Marie-Tooth disease
Charcot Marie Tooth
CMT
Dejerine-Sottas disease
dHMN
Distal hereditary motor neuropathy
Familial neuropathy
Hereditary motor and sensory neuropathy
Hereditary sensory and autonomic neuropathy
Hereditary spastic paraplegia
HMSN
HNPP
HSAN
HSN
HSP
Inherited neuropathy
Inherited peripheral neuropathy
Metabolic neuropathy
MPZ
PMP22
Spastic paraplegia
Syndromic neuropathy
Familial Brachial Plexus Neuritis
Hereditary Neuralgic Amyotrophy
Heredofamilial Neuritis with Brachial Plexus Predilection
HNA
SEPT9
SEPTS
SEPTZ
Custom Gene Ordering
Custom Gene Panel
Custom NGS Panel
Custom ordering
Custom Panels
Custom Sequencing Panels
Custom sequencing test
Customizable Epilepsy Panels
Customizable Hereditary Panels
Customizable Panels
A la carte
Next Gen Sequencing