TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: NCLGP    
Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies

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

Follow up for abnormal biochemical or electron microscopy results suspicious for neuronal ceroid lipofuscinoses (NCL)

 

Establishing a molecular diagnosis for patients with NCL

 

Identifying variations within genes known to be associated with NCL, 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 test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 16 genes associated with neuronal ceroid lipofuscinosis (NCL/Batten Disease): ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, CTSK, DNAJC5, GRN, KCTD7, MFSD8, PANK2, PPT1, SGSH, TPP1. See Targeted Genes and Methodology Details for Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel in Special Instructions and Method Description for additional details.

 

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for NCL (Batten disease).

 

Additional first tier testing may be considered/recommended. For more information see Advisory Information.

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 followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

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

Yes

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

NCL (Batten Disease) Gene Panel

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

Batten disease
NCL
Next Gen Sequencing Test