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We currently offer single-strand conformation polymorphism (SSCP) exon scanning, followed by direct PCR-based bi-directional sequencing of DNA, to identify mutations in the NF2 gene.
In patients with bilateral vestibular schwannomas [BVS], mutations are identified by this screening strategy in about 60% of cases. In approximately 30% of patients with BVS, a deletion or duplication has been identified in the NF2 gene. Therefore, we now offer multiplex ligation-dependent probe amplification [MLPA] 1 for dosage analysis.
Sample Preparation: Sample Preparation (PDF)
Results of DNA analysis will be communicated in a written report to the referring professional.
Testing is appropriate for the study of affected patients, for diagnostic confirmation in a presumed affected, and in pre-symptomatic carrier or prenatal testing situations. This analysis can be done from genomic DNA extracted from whole blood, tumor and/or from chorionic villi (CVS) or amniotic fluid samples.
References1. Schouten JP et al.  Relative quantification of 40 nucelic acid sequences by multiplex ligation-dependent probe amplification. Nuc Acids Res 30(12)e57.
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