Neurogenetics DNA Diagnostic Laboratory: DNA Diagnostic Testing for Juvenile Neuronal Ceroid Lipofuscinosis (JNCL; Batten disease; CLN3)

  • Phone: 617-726-5721

Test Description

CLN3 testing can be done in two tiers or as a reflex testing. The Batten’s common 1kb deletion test will be done by PCR amplification and sizing analysis. The common 1kb deletion has been reported in 73% of CLN3 disease alleles. The full sequencing analysis covers the 15 exons of the CLN3 gene as well as the adjacent intronic regions. The deletion test can be ordered alone, in conjunction with or reflex to the full sequencing analysis. Nonsense, missense, splicing mutations, small insertion and deletion mutations have all been reported in the CLN3 gene.

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.

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.

Updated 8/1/2012