Neurogenetics DNA Diagnostic Laboratory: Testing for Neurofibromatosis, type 2 (NF2): Deletion Analysis by MLPA

  • Phone: 617-726-5721

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