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PTCH1 Gene Basal cell nevus syndrome NGS Genetic Test

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PTCH1 Gene Basal cell nevus syndrome NGS Genetic Test

Short Name: PTCH1 BCNS NGS Test

Also known as: Gorlin Syndrome, Basal Cell Nevus Syndrome

PTCH1 Gene Basal cell nevus syndrome 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 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)Pediatrics🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 3, 2026

Overview

To diagnose Basal Cell Nevus Syndrome (Gorlin Syndrome) by detecting pathogenic mutations in the PTCH1 gene using next-generation sequencing, enabling early intervention and management.

Test Code
5665
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history review and genetic counseling session to draw a pedigree chart of family members affected with BCNS.

Step 2

Laboratory Analysis

Blood draw or DNA extraction from provided sample.

Step 3

Report Delivery

Apply pressure to the puncture site and follow standard post-phlebotomy care.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review to assess the need for testing.
2
During the Test:Sample processing and next-generation sequencing analysis in the laboratory.
3
After the Test:Report generation, followed by genetic counseling to discuss results and management options.

About This Test

Who Should Get This Test

To diagnose Basal Cell Nevus Syndrome (Gorlin Syndrome) by detecting pathogenic mutations in the PTCH1 gene using next-generation sequencing, enabling early intervention and management.

How to Prepare

  • Bring valid ID and doctor's prescription
  • Inform about any medications or health conditions
  • Follow any specific instructions from the lab

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for PTCH1 mutations can help in timely management of Gorlin syndrome and reduce cancer risks through proactive screening and interventions."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling or container

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PTCH1 gene, which are associated with Basal Cell Nevus Syndrome.
📊

Positive

Pathogenic variant detected, consistent with increased risk for BCNS. Clinical correlation and genetic counseling recommended.

📊

Negative

No pathogenic variant detected, but does not completely rule out BCNS if clinical symptoms persist. Further evaluation may be needed.

📊

Variant of Uncertain Significance

A genetic variant was found, but its clinical significance is unknown. Additional testing or family studies may be required.

⚠️ When to Consult a Doctor:

If symptoms of BCNS are present, such as multiple skin cancers or jaw cysts, or if there is a family history of the syndrome.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not suitable for prenatal diagnosis unless specified

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic test results, requiring counseling

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Technical errors during sequencing

Frequently Asked Questions

What is PTCH1 Gene Basal Cell Nevus Syndrome?
It is a genetic disorder caused by mutations in the PTCH1 gene, leading to multiple basal cell carcinomas and other abnormalities, also known as Gorlin syndrome.
How is the NGS genetic test performed?
The test uses next-generation sequencing to analyze the PTCH1 gene from a blood or DNA sample, detecting mutations associated with the syndrome.
What is the cost of the PTCH1 Gene Basal Cell Nevus Syndrome NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the PTCH1 gene, confirming a diagnosis of BCNS and increasing cancer risk, requiring medical management.
What does a negative test result mean?
A negative result means no pathogenic variant was detected, but clinical evaluation is still advised if symptoms persist.
Are there any risks associated with this genetic test?
The test involves minimal physical risks from blood draw, but genetic results may have psychological impacts, so counseling is recommended.
Who should consider getting this test?
Individuals with symptoms of BCNS, such as multiple basal cell carcinomas, or those with a family history of the syndrome.
Is genetic counseling required before the test?
Yes, genetic counseling is recommended to understand the test implications and draw a family pedigree chart.
What is the accuracy of the NGS genetic test for BCNS?
NGS is highly accurate for detecting PTCH1 mutations, but no test is 100% foolproof; clinical correlation is essential.
How can I book the PTCH1 Gene Basal Cell Nevus Syndrome NGS Genetic Test?
You can book online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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