DNA Diagnostic Testing for Autosomal Dominant Adult onset Neuronal Ceroid Lipofuscinosis (DNAJC5, CLN4, ANCL)
- Phone: 617-726-5721
REQUIRED FOR ALL ORDERS
FORMS
- General Requisition Form
- Test Addition Form
- NCL Checklist
- Sample Preparation
- Consent Form
- Medical Release Form
CREDENTAILS
- CLIA #22DO883928
- New York State #CQP4866
- CLIA Certificate
- NY License, Sims
- NY License Xin
- Maryland License
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
