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Nevoid basal cell carcinoma 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 [...]+ Mutation-specific testing + Prenatal testing
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%).
PTCH1 Gene Sequencing & Del/Dup
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of a clinical diagnosis
- Identification of at-risk family members
- Determination of appropriate screening and treatment
- Prenatal diagnosis or pre-implantation diagnosis (PGD)
- Lab Method:
- Capillary Sequencing
- Test Code:
- Turnaround Time:
- 8-9 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- 81479x1, 88271x10, 88291x1
- List Price:
- Billing Information:
- View Neurology Billing Policy
- ICD Codes:
- 741: With hydrocephalus [0-3], Arnold-Chiari syndrome, type II, Chiari malformation, type II, Any condition classifiable to 741.9 with any condition classifiable to 742.3
- 742.4: Other specified anomalies of brain, Congenital cerebral cyst, Macroencephaly, Macrogyria, Megalencephaly, Multiple anomalies of brain NOS, Porencephaly Ulegyria
- 756.3: Other anomalies of ribs and sternum; Congenital absence of: rib sternum Congenital: fissure of sternum fusion of ribs; Sternum bifidum
- M8090/3: Basal cell carcinoma
- 756.1: Anomaly of spine, unspecified
- 526: Developmental odontogenic cysts Cyst: dentigerous eruption follicular lateral developmental lateral periodontal primordial Keratocyst
- 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.