The results of the following investigations may significantly influence the likelihood of detecting a heritable pathogenic variant in the NF2 gene and are part of clinical care for individuals at risk of NF2:
- head and spine MRI
- hearing evaluation, including brain stem auditory evoked responses (BAER)
- ophthalmologic evaluation if testing criteria not already met
- cutaneous examination
- consider LZTR1 and SMARCB1 in patients with multiple non-vestibular schwannomas
Due to a high level of somatic mosaicism, NF2 pathogenic variant search and loss of heterozygosity (LOH) testing in tumour tissue is recommended. Based on the tumour testing results, germline testing may be useful in the proband and/or their relatives.