Neurogenetics DNA Diagnostic Laboratory: Testing for Autosomal Dominant Neurofibromatosis Type 2

  • Phone: 617-726-5721

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.