Direct test using an RNA/cDNA-based direct sequencing of the entire coding region and MLPA analysis to detect copy number changes. Copy number changes are confirmed by long range RT-PCR, quantitative PCR and/or aCGH.
Confirmatory diagnostic testing; Testing in an affected patient to prepare for predictive testing and early detection of at-risk relatives for management reasons; Predictive testing for early detection of at-risk individuals for management reasons; Testing in an affected patient to prepare for prenatal diagnosis and/or pre implantation diagnosis.
Interpretive report provided.
5 - 6 weeks
- Neurofibromatosis Type 2 (NF2) Gene Sequencing
Collect sufficient lavender top tubes. Send intact specimen at room temperature. Specimens are accepted by MLabs Monday through Thursday only and must be received by performing laboratory within 60 hours of collection (specimen must be received by MLabs by 6:00 pm). Specimen must be accompanied by NF2 laboratory request form, NF2 informed consent form, and phenotypic checklist form available from MLabs.
The mutation detection rate in leukocytes is 93% in non-founder NF2 patients. Mutations detected include truncating mutations (nonsense, frameshift, splicing mutations including deep intronic splice mutations), missense mutations, multi-exon deletions or duplications and total gene deletions. In about 25-30% of founders (simplex cases, patients with unaffected parents), mutations are not detected in blood lymphocytes as a result of somatic mosaicism. Only mutations with mosaicism levels greater than 10% can be detected in lymphocyte DNA (Evans et al, 2007). Identification of the majority of mosaic mutation requires testing of tumor tissue (Evans et al, 2007); more information can be found under NF24, testing from tumor tissue. Test sent to the University of Alabama at Birmingham Medical Genomics Laboratory.