Laboratory Issues

There is no standardized proficiency program of interlabo-ratory comparison for NF2 testing; performance assessment must be conducted by participation in ungraded proficiency survey programs, split sample analysis with other laboratories, or other suitable and documented proficiency-testing methods. No NF2 testing kits, probes, or controls are approved or cleared by the Food and Drug Administration. Direct gene sequencing may not be the optimal test to detect NF2 mosaic mutations in lym-phoblasts, since reliable detection of a low-level point mutation will be difficult. Exon-scanning techniques that are semiquantitative, such as TGGE, will detect relative intensity differences between heteroduplexes and homoduplexes that suggest possible mosaicism.51 Depending on age, fixation, and storage conditions, some tumors may not yield nucleic acid of sufficient quality for mutational analysis.


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