Nevoid Basal Cell Carcinoma (NBCCS) (Gorlin) Syndrome Panel (PTCH1, SUFU)
Also known as: BCNS, Gorlin-Goltz syndrome, Gorlin Goltz syndrome, Inherited Cancer Panel
Use
Identifies individuals with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, by detecting single‑nucleotide variants, deletions, and duplications in PTCH1 and SUFU, genes known to be associated with this hereditary predisposition syndrome ([questdiagnostics.com](https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/faq251?utm_source=openai))
Special Instructions
Informed consent is required, and genetic counseling is recommended. If a familial mutation is known, single‑site testing (test code 93945) may be appropriate, and orderable components may exist separately ([questdiagnostics.com](https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/faq251?utm_source=openai))
Limitations
Limited to analysis of PTCH1 and SUFU genes; does not include other hereditary cancer–associated genes or all gene regions associated with NBCCS. False positives or negatives may occur; rare or novel variant interpretation may remain uncertain; should be interpreted in clinical context and variant updates may change over time ([questdiagnostics.com](https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/faq251?utm_source=openai))
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided