Gorlin Syndrome

The classic diagnostic triad for Gorlin syndrome includes: multiple basal cell carcinomas (BCC) of the skin that develop at an early age and may number in the hundreds to thousands over a lifetime; odontogenic keratocysts of the jaw; and palmar and plantar pits. Calcification of the falx cerebri (visible on skull x-ray) is present in the majority of affected individuals by age 20. Many skeletal anomalies occur in association with the disorder, including malformations of the spine and vertebrae. Other congenital malformations are present in about 5% of affected patients, most notably cleft lip and/or palate and polydactyly. Approximately 60% of affected individuals have a characteristic facial appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Sebaceous and dermoid cysts are common. With the exception of macrocephaly, many of these features become pronounced around puberty. In addition to the extremely high risk for skin cancer (BCC), individuals are at increased risk for pediatric medulloblastoma (5% of affected patients), cardiac fibromas (2%), and ovarian fibromas in women (20%).

Tests Available

Forms and Documents

Test Details

PTCH1
  • An individual with a personal and family history of skin pigment abnormalities and/or tumors associated with Carney Complex such as lentigines, myxoma, primary pigmented nodular adrenocortical disease (PPNAD), psammomatous melanotic schwannomas (PMS), large-cell calcifying Sertoli cell tumors (LCCSCT) and other tumors
  • An individual with multiple tumors associated with Carney Complex, particularly if at least one is early-onset
  • An individual with a personal history of a rare tumor associated with Carney Complex such as cardiac myxoma, PPNAD, PMS, and other tumors
  • An unaffected individual with a family history suggestive of Carney Complex (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing
  • Exon Array CGH

Ordering

205
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Klein, R. et al., Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med. 7: 611-19, 2005
  2. 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
  3. Lindström, E. et al., PTCH Mutations: Distribution and Analyses. Hum Mutat. 27: 215-19, 2006
  4. Benhamed S and Bale S. Gorlin Syndrome: A substantial proportion of previously “missing” mutations are large PTCH deletions. ASHG Abstract presented 2008.

Forms and Documents

Test Details

CUL4B, EZH2, GLI3, GPC3, MED12, NFIX, NSD1, PHF6, PTCH1, PTEN, UPF3B
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with macrocephaly
  • Genetic counseling
  • Diagnostic or carrier testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutations in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

699
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81321x1, 81323x1, 81401x1, 81405x1, 81406x1
No
Yes
* For price inquiries please email zebras@genedx.com