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CYLD Gene Cylindromatosis, familial NGS Genetic Test

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CYLD Gene Cylindromatosis, familial NGS Genetic Test

Short Name: CYLD Gene Test

Also known as: Brooke-Spiegler syndrome, Familial cylindromatosis

CYLD Gene Cylindromatosis, familial NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS Genetic Test🏠 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 mutations in the CYLD gene for accurate diagnosis of familial cylindromatosis, aiding in clinical management and genetic counseling.

Test Code
2866
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
NGS Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling session to draw a pedigree chart.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or collection using FTA card.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis; results are delivered in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation to assess symptoms and family history.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Wait for results for 3 to 4 weeks; consult a geneticist for interpretation and next steps.

About This Test

Who Should Get This Test

To detect mutations in the CYLD gene for accurate diagnosis of familial cylindromatosis, aiding in clinical management and genetic counseling.

How to Prepare

  • Share detailed clinical history of the patient
  • Participate in a genetic counseling session
  • Draw a pedigree chart of affected family members
  • Ensure sample is collected in appropriate container

Doctor's Notes

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

"This test is crucial for confirming diagnosis and guiding treatment in familial cylindromatosis, helping to manage skin tumor risks."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Stable at room temperature for 24 hours
Store as per lab guidelines for longer periods
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample
  • Incorrect sample type or container
  • Missing patient information

Understanding Your Results

Results indicate the presence or absence of mutations in the CYLD gene. A positive result confirms familial cylindromatosis, while a negative result may require further testing.
📊

Pathogenic mutation detected

Confirms diagnosis of familial cylindromatosis; genetic counseling and monitoring recommended.

📊

No pathogenic mutation detected

Reduces likelihood of CYLD-related disorder; consider other genetic or clinical evaluations.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If you experience symptoms such as multiple skin tumors, have a family history of cylindromatosis, or receive a positive genetic test result.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have implications for family members

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample collection

Frequently Asked Questions

What is the CYLD Gene Cylindromatosis NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the CYLD gene, which causes familial cylindromatosis, a disorder with multiple skin tumors.
What are the symptoms of CYLD gene cylindromatosis?
Symptoms include multiple skin tumors on the scalp, face, neck, or trunk, which are often painless, slow-growing, and may bleed or become infected.
How is the test performed?
The test involves collecting a blood sample or DNA extract, which is analyzed using NGS technology to identify mutations in the CYLD gene.
What is the cost of the test in India?
The cost is INR 20000, with free home sample collection available across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is fasting required for this test?
No, fasting is not required for the CYLD Gene Cylindromatosis NGS Genetic Test.
Who should consider this test?
Individuals with symptoms of multiple skin tumors, a family history of cylindromatosis, or suspected Brooke-Spiegler syndrome.
What does a positive result mean?
A positive result confirms a mutation in the CYLD gene, indicating familial cylindromatosis, and guides treatment and monitoring.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before the test to draw a pedigree chart and discuss implications.
Can this test be done at home?
Yes, free home sample collection is available for online bookings in various cities across India.
What are the risks of the test?
Risks are minimal, including minor bruising from blood draw and rare infection risk; emotional impact of results should be considered.
How accurate is the NGS Genetic Test?
The test is highly accurate for detecting mutations in the CYLD gene, but may not identify all genetic variants; genetic counseling is advised for interpretation.
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

Your Data Privacy

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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