Both ddPCR and MLPA analyses detected a significantly increased PTCH1 copy number in the peripheral lymphocyte DNA of the BCNS patient (index) with an average duplication factor of 1.49 and an average relative copy-number ratio of 1.445, respectively (the average of the MLPA probes in the gained region). Here, PTCH1 is linked to nevoid basal cell carcinoma syndrome.