Neurogenetics DNA Diagnostic Laboratory: Testing for Autosomal Dominant Neurofibromatosis Type 2
- 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 linkage analysis of the NF2 gene using PCR amplification and flanking and introgenic markers. Linkage analysis is recommended when 1) the mutation screening and MLPA analysis of the family proband is negative, and 2) there are multiple affected and unaffected family members spanning at least two generations.
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 pre-symptomatic and prenatal testing situations after the family mutation has been identified in the proband.
