Neurogenetics DNA Diagnostic Laboratory: Testing for Neurofibromatosis, type 2 (NF2): Deletion Analysis by MLPA
- 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 offer this deletion analysis test using MLPA technology (multiplex ligation-dependent probe amplification) to detect large DNA rearrangements (deletions and duplications) in the NF2 gene.
Results from NF2 research have indicated that large deletions/duplications account for at least 10% of mutations in NF2 patients.
Sample Preparation: Sample Preparation (PDF)
Results
Results of DNA analysis will be communicated in a written report to the referring professional.
Reasons
This analysis is appropriate for patients who had previous NF2 test by exon scanning method but no mutation was found, and for offspring/sibling and prenatal testing when the large DNA rearrangement has been confirmed in the affected family member.
Note: If our laboratory previously tested this person’s DNA, please contact us and ask if we still have sufficient DNA to complete the additional MLPA analysis.
updated 5/24/2012
