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Table 1 Molecular genetic tests used in Gorlin-Goltz syndrome

From: Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones

Gene Genetic test Proportion of probands with a pathogenic variant detectable by genetic testing
PTCH1 Gene sequence analysis 50–85%
Gene deletion/duplication analysis 6–21%
SUFU Gene sequence analysis 5%
Gene deletion/duplication analysis ~1%