DNA Diagnostic Testing for Infantile Neuronal Ceroid Lipofuscinosis (PPT1, CLN1, INCL) at the Neurogenetics DNA Diagnostic Laboratory
- 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 PPT1 gene using PCR amplification and direct DNA sequencing of the coding exons. Nonsense, missense, splicing mutations, small insertion and deletion mutations have all been reported in the PPT1 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 suspected affected patient, and in prenatal testing situations after the family mutation has been identified in the proband.
updated 8/6/2012
