CYLD Gene Trichoepithelioma, multiple familial, type 1 NGS Genetic Test
Short Name: CYLD NGS Test
Also known as: CYLD gene mutation test, Trichoepithelioma genetic panel, MFT1 NGS test
CYLD Gene Trichoepithelioma, multiple familial, type 1 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 Results are typically available within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via email or phone when the report is ready.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of this test is to confirm a clinical diagnosis of multiple familial trichoepithelioma type 1 by identifying pathogenic mutations in the CYLD gene. It is also used for predictive testing in asymptomatic family members of affected individuals, enabling early surveillance and management. Additionally, the test aids in genetic counseling by providing accurate recurrence risk information for family planning.
- Test Code
- 6028
- CPT Code
- 81479
- ICD Code
- Q82.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via email or phone when the report is ready.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the implications of the results. Please inform the lab if you have had a blood transfusion in the past 3 months.
Method: Venipuncture or finger prick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist using sterile techniques. For FTA card, a simple finger prick will be performed. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately. The sample will be transported to the laboratory for analysis.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via email or phone when the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to confirm a clinical diagnosis of multiple familial trichoepithelioma type 1 by identifying pathogenic mutations in the CYLD gene. It is also used for predictive testing in asymptomatic family members of affected individuals, enabling early surveillance and management. Additionally, the test aids in genetic counseling by providing accurate recurrence risk information for family planning.
How to Prepare
- Ensure the sample is labeled correctly with patient details.
- For blood sample, use EDTA vacutainer and mix gently to prevent clotting.
- For FTA card, apply one drop of blood onto the designated circle and allow to air dry.
- Store sample at room temperature (15-30°C) until shipment.
- Ship the sample to the lab within 24-48 hours of collection.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for CYLD mutations is crucial for confirming MFT1 diagnosis and guiding family screening. Early detection allows for proactive management of skin lesions and surveillance for potential complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrect labeling
- Sample received after prolonged storage (>7 days at room temperature)
- Sample exposed to extreme temperatures
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of MFT1. Autosomal dominant inheritance. Family members at risk should be offered testing. Clinical surveillance for skin lesions and other CYLD-related manifestations is recommended.
Negative (No pathogenic variant detected)
Does not rule out MFT1 if clinical suspicion is high. Other genetic causes may be considered. Further testing or clinical evaluation may be needed.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Additional family studies or functional assays may help clarify. Genetic counseling is advised.
Consult a dermatologist or geneticist if you have multiple skin bumps on the face or upper body, especially if they are increasing in number or size, or if you have a family history of trichoepithelioma. Also, seek medical advice if you experience bleeding, itching, or cosmetic concerns from the lesions.
Limitations
- ⚠This test only analyzes the CYLD gene; mutations in other genes (e.g., CYLD-related syndromes) may not be detected.
- ⚠NGS may not detect all types of mutations (e.g., deep intronic variants, large structural rearrangements) – additional testing may be required.
- ⚠Variant of uncertain significance (VUS) results may require further family studies.
- ⚠Test does not predict severity or age of onset of symptoms.
- ⚠Genetic testing should be accompanied by genetic counseling.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic test results
- ●Potential for incidental findings (unrelated genetic variants)
- ●Risk of genetic discrimination (though limited by laws in some countries)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample quantity
- ●Presence of maternal cell contamination (if prenatal)
- ●Recent blood transfusion (may dilute DNA)
- ●Certain medications that affect DNA quality (rare)
Compare With Similar Tests
| Test | CYLD Gene Trichoepithelioma, multiple familial, type 1 NGS Genetic Test | CYLD Gene Sequencing (Sanger) | Skin Tumor Panel (NGS) | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | CYLD Gene Trichoepithelioma, multiple familial, type 1 NGS Genetic Test |
Frequently Asked Questions
What is multiple familial trichoepithelioma type 1 (MFT1)?
How is the CYLD gene NGS test performed?
What is the cost of the CYLD gene NGS test?
Who should consider this genetic test?
What does a positive result mean?
What does a negative result mean?
What is a variant of uncertain significance (VUS)?
Is fasting required before the test?
What sample types are accepted?
How long does it take to get results?
Is home sample collection available?
Will insurance cover this test?
Related Tests
Nx Gen Sequencing: Albinism Test
₹28,665ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic Test
₹20,000COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test
₹20,000KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test
₹20,000LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test
₹20,000ENPP1 Gene Cole disease NGS Genetic Test
₹20,000Reference 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.
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.