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SUFU Gene Basal cell nevus syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SUFU Gene Basal cell nevus syndrome NGS Genetic Test

Short Name: SUFU Gene BCNS NGS Genetic Test

Also known as: Gorlin Syndrome, BCNS

SUFU 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.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

To detect mutations in the SUFU gene for diagnosis, risk assessment, and management of Basal Cell Nevus Syndrome (Gorlin Syndrome).

Test Code
5667
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

Consult with a genetic counselor and provide clinical history.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Sample processed for NGS analysis; report delivered in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss implications and draw a pedigree chart.
2
During the Test:Sample collection and processing for NGS analysis.
3
After the Test:Report review with healthcare provider and follow-up care planning.

About This Test

Who Should Get This Test

To detect mutations in the SUFU gene for diagnosis, risk assessment, and management of Basal Cell Nevus Syndrome (Gorlin Syndrome).

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Follow standard phlebotomy procedures

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for SUFU gene mutations is crucial for early detection and management of Gorlin Syndrome, especially in families with a history of the condition."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per standard protocol
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood: 48 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SUFU gene. Positive results confirm diagnosis of BCNS, while negative results may require further clinical evaluation.
📊

Positive for SUFU mutation

Confirms diagnosis of Basal Cell Nevus Syndrome; increased risk for associated tumors.

📊

Negative for SUFU mutation

No pathogenic variants detected; clinical correlation recommended if symptoms persist.

⚠️ 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 condition.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample collection or storage

Frequently Asked Questions

What is SUFU Gene Basal Cell Nevus Syndrome?
It is a rare genetic disorder caused by mutations in the SUFU gene, leading to increased risk of basal cell carcinomas and other tumors.
What are the symptoms of BCNS?
Symptoms include multiple basal cell carcinomas, odontogenic keratocysts, palmar and plantar pits, and calcification of the falx cerebri.
How is BCNS diagnosed?
Diagnosis is based on clinical history, physical examination, and confirmed through genetic testing for SUFU gene mutations.
What is the SUFU Gene NGS Genetic Test?
It is a Next-Generation Sequencing test that detects mutations in the SUFU gene with high accuracy for diagnosing BCNS.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, including home sample collection.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
What sample type is required?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Who should get this test?
Individuals with symptoms of BCNS, family history, or those at risk based on clinical evaluation.
What are the risks of the test?
The test involves minimal risks, primarily related to blood draw, such as slight bruising.
How accurate is the NGS test?
NGS technology provides high accuracy and specificity for detecting SUFU gene mutations.
What should I do after receiving the test results?
Consult with a genetic counselor or healthcare provider to understand the results and plan management.
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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For Hospitals & Clinics

Reference Laboratory Services

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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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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