Neurogenetics DNA Diagnostic Laboratory: DNA Diagnostic Testing for Late Infantile Neuronal Ceroid Lipofuscinosis (TPP1 LINCL; CLN2)
- 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
We are currently offering DNA mutation analysis of the TPP1 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 TPP1 gene.
Please complete our NCL Clinical Features Checklist before ordering.
Sample Preparation: Sample Preparation (PDF)
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.
Results
Results of DNA analysis will be communicated in a written report to the referring professional.
Updated 8/6/2012
