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FLCN Gene Birt-Hogg-Dube syndrome NGS Genetic Test

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FLCN Gene Birt-Hogg-Dube syndrome NGS Genetic Test

Short Name: FLCN Gene BHDS NGS Genetic Test

Also known as: Birt-Hogg-Dubé syndrome, FLCN gene mutation test

FLCN Gene Birt-Hogg-Dube 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)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the FLCN gene for diagnosis, risk assessment, and management of Birt-Hogg-Dube syndrome.

Test Code
5673
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

No special preparation required. Provide detailed clinical history and family pedigree during genetic counseling.

Method: Venipuncture for blood, cheek swab for DNA

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Sample will be processed and sent to the laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test purpose, implications, and to draw a family pedigree chart.
2
During the Test:Sample collection and processing as per standard laboratory protocols.
3
After the Test:Results will be reviewed by a geneticist and reported with clinical interpretation and recommendations.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the FLCN gene for diagnosis, risk assessment, and management of Birt-Hogg-Dube syndrome.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately with patient details

Doctor's Notes

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

"Early genetic testing for FLCN mutations can guide management and prevent complications in Birt-Hogg-Dube syndrome."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerAppropriate container for sample type (e.g., EDTA tube for blood)
Collection MethodVenipuncture for blood, cheek swab for DNA

Sample Stability

Blood sample stable at room temperature for up to 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Test results indicate the presence or absence of pathogenic variants in the FLCN gene, aiding in the diagnosis of Birt-Hogg-Dube syndrome.
📊

Pathogenic variant detected

Consistent with diagnosis of Birt-Hogg-Dube syndrome. Genetic counseling and surveillance for complications recommended.

📊

No pathogenic variant detected

BHDS unlikely based on genetic testing, but clinical correlation advised if symptoms persist.

📊

Variant of uncertain significance (VUS)

Further testing, family studies, or clinical follow-up may be needed for clarification.

⚠️ When to Consult a Doctor:

If you experience symptoms of BHDS such as skin lesions, lung cysts, or kidney issues, or have a family history, consult a geneticist or specialist for evaluation and testing.

Limitations

  • ⚠May not detect all types of genetic variants (e.g., large deletions)
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not rule out other genetic conditions with overlapping symptoms

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results on patient and family

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Hemolyzed or clotted blood samples

Compare With Similar Tests

TestFLCN Gene Birt-Hogg-Dube syndrome NGS Genetic TestSanger Sequencing for FLCNKidney Cancer Gene Panel
ComparisonFLCN Gene Birt-Hogg-Dube syndrome NGS Genetic Test

Frequently Asked Questions

What is Birt-Hogg-Dube Syndrome?
Birt-Hogg-Dube Syndrome (BHDS) is a rare genetic disorder caused by mutations in the FLCN gene, leading to skin lesions, lung cysts, and kidney tumors.
What causes BHDS?
BHDS is caused by mutations in the FLCN gene, which is inherited in an autosomal dominant pattern, meaning one mutated copy can cause the condition.
What are the symptoms of BHDS?
Common symptoms include multiple skin lesions (fibrofolliculomas), lung cysts that may cause shortness of breath, and kidney tumors that can be asymptomatic initially.
How is BHDS diagnosed?
Diagnosis involves genetic testing to detect FLCN mutations, along with imaging tests like CT scans for lung cysts and kidney tumors, and sometimes skin biopsy.
What is the FLCN gene?
The FLCN gene provides instructions for making a protein that helps regulate cell growth and division. Mutations in this gene lead to BHDS.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a advanced genetic testing method that can analyze multiple genes simultaneously, providing comprehensive results for conditions like BHDS.
How much does the FLCN Gene BHDS NGS test cost in India?
The test costs INR 20000 at DNA Labs India, with home sample collection available across many cities in India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities 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 should I do before getting tested?
Before testing, consult a genetic counselor to discuss your medical history, family pedigree, and understand the test implications.
What do the test results mean?
Results indicate if pathogenic FLCN variants are detected. Positive results confirm BHDS, while negative results make it unlikely, but clinical correlation is advised.
Can BHDS be treated or managed?
While there is no cure, management includes regular monitoring for kidney tumors, treatment of skin lesions, and precautions for lung cysts. Early diagnosis helps in proactive care.
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.

LIMS Integration

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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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