5 - 6 weeks
Neurofibromatosis Type 2 (NF2) Gene Sequencing
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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.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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.