MSNP - Overview: Metabolic/Syndromic Neuropathy Panel by Next-Generation Sequencing (NGS)

Test Catalog

Test Name

Test ID: MSNP    
Metabolic/Syndromic Neuropathy Panel by Next-Generation Sequencing (NGS)

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

Diagnosis of an inherited metabolic or syndromic neuropathy associated with known causal genes

 

Second-tier testing for patients in whom previous targeted gene mutation analyses for specific inherited metabolic or syndromic neuropathy genes where negative

 

Identifying mutations within genes known to be associated with inherited metabolic or syndromic 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 Metabolic/Syndromic Neuropathy Panel in Special Instructions for details regarding the targeted genes 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

Metabolic or Syndromic Neuropathies

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

Metabolic neuropathy
Syndromic neuropathy
Fabry disease
Krabbe disease
Acute intermittent porphyria
Adrenomyeloneuropathy
Adrenoleukodystrophy
Metachromatic leukodystrophy
Ataxia-telangiectasia
Cerebrotendinous xanthomatosis
Charcot-Marie-Tooth disease
Giant axonal neuropathy-1
Adult polyglucosan body neuropathy
Spastic paraplegia-1
MASA syndrome
Mitochondrial neurogastrointestinal encephalopathy
Hereditary motor and sensory neuropathy
Transthyretin amyloidosis
CMTX5
HMSN IV
MNGIE disease
APBN
CCFDN
CTX
GAN1
SPG1
Peripheral neuropathy
Inherited neuropathy
Familial neuropathy
ABCD1
ARSA
ATM
CTDP1
CYP27A1
FBLN5
GALC
GAN
GBE1
GJB3
GLA
HMBS
L1CAM
PHYH
PRPS1
TTR
TUBB3
TYMP
XPC