Table 1 Molecular genetic tests used in Gorlin-Goltz syndrome
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% |