PNPAN - Overview: Peripheral Neuropathy Expanded Panel by Next-Generation Sequencing (NGS)

Test Catalog

Test Name

Test ID: PNPAN    
Peripheral Neuropathy Expanded Panel by Next-Generation Sequencing (NGS)

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

Diagnosis of inherited peripheral neuropathies with isolated nerve involvement or associated with other organ system or associated with metabolic syndromes with known causal genes

 

A second-tier test for patients in which 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 test or proper submission of the test request

This test includes next-generation sequencing and Sanger sequencing to evaluate for the genes listed on the panel. See Targeted Genes Interrogated by Peripheral Neuropathy Expanded Panel in Special Instructions for details regarding the targeted gene regions identified by this test.

 

Prior Authorization is available for this assay; see Special Instructions

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

See Hereditary Peripheral Neuropathies Testing Algorithm in Special Instructions

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate

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

Conditional

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Peripheral Neuro Expanded Panel

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

Charcot-Marie-Tooth
CMT
HSN
HSP
Hereditary sensory neuropathy
Hereditary spastic paraplegia
Distal hereditary motor neuropathy
HNPP
Peripheral neuropathy
Inherited neuropathy
Familial neuropathy
dHMN
LITAF
MFN2
NEFL
PMP22
SOD1