Basal cell nevus syndrome (BCNS; MIM 109400) also known as Gorlin syndrome, is an autosomal dominant disease characterized by basal cell tumors, palmar and plantar pits, jaw cysts and skeletal anomalies. Radiological findings include calcification of the falx cerebri, bridged sella, bifid ribs, hemivertebrae, and flame-shaped lucencies of the phalanges, metacarpal, and carpal bones of the hands. These patients can also have medulloblastoma, ovarian calcification or fibroma and cardiac fibroma. Craniofacial findings may include coarse facies, macrocephaly, hypertelorism, frontal bossing and cleft palate. BCNS can be caused by mutations in the PTCH1, PTCH2 or SUFU genes. These genes code for protein patched homolog 1, protein patched homolog 2 and suppressor of fused homolog.

The basal cell nevus syndrome NGS panel consists of three genes: PTCH1, PTCH2 and SUFU.

Copy number variation (CNV) analysis of the Basal cell nevus syndrome genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.