38651 - Nevoid Basal Cell Carcinoma (NBCCS) (Gorlin) Syndrome Panel (PTCH1, SUFU)
A pathogenic variant in the PTCH1 or SUFU genes is consistent with a diagnosis of nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome. Individuals with NBCCS due to PTCH1 have an elevated risk of basal cell carcinoma (up to 90% by age 50) and medulloblastoma (up to 5% lifetime risk). Individuals also have an elevated risk…
