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

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

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.

This test may aid in the diagnosis of inherited peripheral neuropathy

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

• Informed Consent for Genetic Testing
• Hereditary Peripheral Neuropathy Diagnostic Algorithm
• Molecular Genetics: Neurology Patient Information
• Frequently Asked Questions: Custom Gene Ordering Tool
• Informed Consent for Genetic Testing (Spanish)
• Targeted Genes and Methodology Details for Peripheral Neuropathy Gene Panels

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)