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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This guide will help millions of people understand this condition so that they can take control of their lives and make informed decisions. The ebook covers information on a vast number of different types of neuropathy. In addition, it will be a useful resource for their families, caregivers, and health care providers.