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Table 5 Transmission risks to offspring for isolated cases of Neurofibromatosis type 2 before and after negative mutation testing.

From: Neurofibromatosis type 2 (NF2): A clinical and molecular review

  Number PRE testing Mosaic inferred PRE testing Transmission risk POST genetic negative testing in blood Mosaic inferred POST genetic negative testing in blood Transmission risk
< 20 BVS 85 12% 45% 46% 30% 1 in 3
< 20 UVS 21 42% 33% 87% 11% 1 in 9
20–29 BVS 67 27% 36% 78% 16% 1 in 6
20–29 UVS 27 78% 19% 97% 8% 1 in 12
30–39 BVS 54 50% 28% 88% 11% 1 in 9
30–39 UVS 19 85% 12% 98% 6% 1 in 16
40+ BVS 53 63% 22% 93% 9% 1 in 11
40+ UVS 34 90% 10% 99% 5% 1 in 20
  1. Results are based of outcomes of testing in first affected family members and on age at onset and laterality of presentation with vestibular schwannomas (VS).
  2. BVS – presentation with bilateral VS; UVS – initial presentation with unilateral VS