DNA Diagnostic Testing for Autosomal Dominant Adult onset Neuronal Ceroid Lipofuscinosis (DNAJC5, CLN4, ANCL)

  • Phone: 617-726-5721

Test Description

We currently offer DNA mutation analysis of the DNAJC5 gene using PCR amplification and direct DNA sequencing of the coding exons.  Two mutations have been reported in the newly identified DNAJC5 gene,  c.346_348delCTC and c.344T>G.

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 suspected affected patient, and in prenatal testing situations after the family mutation has been identified in the proband. 


updated 8/2/2012