DNA Diagnostic Testing for Finnish variant Late Infantile Neuronal Ceroid Lipofuscinosis ( fLINCL; CLN5)

  • Phone: 617-726-5721

Test Description

We are currently offering DNA mutation analysis of the CLN5 gene using PCR amplification and direct DNA sequencing of the coding exons.  Nonsense, missense, insertion and deletion mutations have been reported in the CLN5 gene.

Please complete our NCL Clinical Features Checklist before ordering.

Sample Preparation: Sample Preparation (PDF)

Results

Results of DNA analysis will be communicated in a written report to the referring professional.

Reason

DNA analysis is appropriate for the study of affected patients, for diagnostic confirmation in a presumed affected patient, and in carrier or prenatal testing situations after the family mutation has been identified in the proband. 

Updated 8/1/2012