HSPP - Overview: Hereditary Spastic Paraplegia Neuropathy Panel by Next-Generation Sequencing (NGS)

Test Catalog

Test Name

Test ID: HSPP    
Hereditary Spastic Paraplegia Neuropathy Panel by Next-Generation Sequencing (NGS)

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

Diagnosis of hereditary spastic paraplegia with neuropathy associated with known causal genes

 

Second-tier testing for patients in whom previous targeted gene mutation analyses for specific inherited hereditary spastic paraplegia-related genes were negative

 

Identifying mutations within genes known to be associated with hereditary spastic paraplegia, 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 Spastic Paraplegia 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

Spastic Paraplegia Neuropathy Panel

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

HMSN
HSP
Hereditary motor sensory neuropathy
Hereditary spastic paraplegia
Peripheral neuropathy
Inherited neuropathy
Familial neuropathy
ATL1
BSCL2
CYP7B1
HSPD1
KIAA0196
KIF5A
NIPA1
PLP1
RTN2
SPLC12A6
SPLC16A2
SPAST
SPG11
SPG20
SPG21
SPG7
ZFYVE26
ZFYVE27