PTCH2 Gene Basal cell nevus syndrome due to germline PTCH2 mutation NGS Genetic Test
Short Name: PTCH2 BCNS NGS Test
Also known as: Gorlin-Goltz Syndrome, Basal Cell Nevus Syndrome, BCNS
PTCH2 Gene Basal cell nevus syndrome due to germline PTCH2 mutation NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the PTCH2 Gene Basal Cell Nevus Syndrome NGS Genetic Test is to detect germline mutations in the PTCH2 gene associated with Basal Cell Nevus Syndrome (Gorlin-Goltz syndrome). This test aids in confirming diagnosis, assessing risk for family members, guiding personalized treatment plans, and facilitating early intervention to manage symptoms and reduce cancer risk.
- Test Code
- 2827
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Ensure genetic counseling is scheduled. Provide detailed clinical and family history. No specific fasting required, but follow lab instructions for sample handling.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture by a trained phlebotomist. For FTA card, a single drop of blood is applied. Ensure proper labeling and documentation.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store sample as per lab guidelines. Await report delivery in 3-4 weeks.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PTCH2 Gene Basal Cell Nevus Syndrome NGS Genetic Test is to detect germline mutations in the PTCH2 gene associated with Basal Cell Nevus Syndrome (Gorlin-Goltz syndrome). This test aids in confirming diagnosis, assessing risk for family members, guiding personalized treatment plans, and facilitating early intervention to manage symptoms and reduce cancer risk.
How to Prepare
- Use sterile equipment for blood collection
- Label samples accurately with patient details
- Transport samples at ambient temperature unless specified
- For FTA cards, allow blood to dry completely before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for PTCH2 mutations can aid in timely management and surveillance of Basal Cell Nevus Syndrome, reducing complications from skin cancers and other symptoms."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of BCNS due to PTCH2 mutation. Recommend genetic counseling, regular dermatological screenings, and family testing.
No pathogenic variant detected
PTCH2 mutation not found. Consider testing for PTCH1 or other genes if clinical suspicion remains. Follow-up with clinical evaluation.
Variant of uncertain significance (VUS)
Genetic change identified but clinical significance unknown. Requires further family studies and clinical correlation. Genetic counseling advised.
Consult a doctor if you have multiple basal cell carcinomas, jaw cysts, or other symptoms of BCNS, especially with a family history. After testing, consult a genetic counselor or dermatologist to discuss results and management options.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or rearrangements
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not rule out mutations in other genes like PTCH1 that may cause similar symptoms
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection from needle stick
- ●Psychological impact of genetic results; counseling recommended
Interfering Factors
- ●Sample contamination during collection or processing
- ●Degraded DNA quality due to improper storage
- ●Presence of inhibitors in the sample affecting sequencing
Frequently Asked Questions
What is Basal Cell Nevus Syndrome (BCNS)?
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