301-519-2100 • FAX 301-519-2892 • 207 PERRY PARKWAY GAITHERSBURG, MD 20877
SEARCH
Gorlin syndrome
Basal cell nevus syndrome
Nevoid basal cell carcinoma syndrome
PTCH (Human homolog of drosophila patched)
New
PTCH analysis is now offered as a comprehensive test, including sequence analysis and deletion/duplication testing. Using genomic DNA obtained from of the submitted specimen (blood in EDTA), bi-directional sequence analysis of exons 1-23 and the splice sites of the PTCH gene is performed. Simultaneously, targeted array CGH analysis with exon-level resolution (ExonArrayDx) is performed to evaluate for a deletion or duplication of one or more exons of this gene. Approximately 60% of patients with a diagnosis of Gorlin syndrome are expected to have a mutation in the PTCH gene identifiable by sequencing. Of the remaining 40% of patients without such a mutation, a further 30% have been found to have a full or partial deletion involving the PTCH gene. The combination of sequencing and deletion testing thus gives a sensitivity of approximately 72% for the identification of a mutation in a patient with Gorlin syndrome.
*Note
: Buccal Brushes CANNOT be accepted for this test.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
PTCH, patched, Gorlin, Gorlin Syndrome, basal cell, basal cell nevus syndrome, NBCC, jaw cyst, BCC, skin cancer, macrocephaly
© 2000 - 2010 GeneDx. All rights reserved.
