Forms and Documents
- An individual presenting with numerous basal cell carcinomas (BCCs) (>5 in a lifetime) or a BCC before age 30 years.
- An individual with fewer than 5 BCC but with other suggestive features of nevoid basal cell carcinoma syndrome (NBCCS) may also be appropriate for testing (see features below).
- An individual presenting with one or more associated features of NBCCS, such as lamellar calcification of the falx before age 20 years, multiple palmar pits, jaw keratocyst, childhood medulloblastoma, ovarian and/or cardiac fibroma, vertebral/rib anomalies (e.g. bifid/splayed/extra ribs; bifid vertebrae), macrocephaly, among others.
- An unaffected individual with a family history suggestive of NBCCS when the affected individual is unavailable for his or her own genetic testing.
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
- Klein, R. et al., Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med. 7: 611-19, 2005
- Wicking, C. et al., Most Germ-Line Mutations in the Nevoid Basal Cell Carcinoma Syndrome Lead to a Premature Termination of the PATCHED Protein, and No Genotype-Phenotype Correlations Are Evident. Am J Hum Genet. 60: 21-26, 1997
- Lindström, E. et al., PTCH Mutations: Distribution and Analyses. Hum Mutat. 27: 215-19, 2006
- Benhamed S and Bale S. Gorlin Syndrome: A substantial proportion of previously “missing” mutations are large PTCH deletions. ASHG Abstract presented 2008.