CYLD Gene Spiegler-Brooke syndrome NGS Genetic Test
Short Name: CYLD NGS Test
Also known as: CYLD Gene Sequencing, Brooke-Spiegler Syndrome Genetic Test, Cylindromatosis Genetic Test
CYLD Gene Spiegler-Brooke 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 from sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the CYLD gene that cause Spiegler-Brooke syndrome. It is used to confirm a clinical diagnosis in individuals presenting with multiple cylindromas or related skin tumors, to provide predictive testing for asymptomatic family members, and to guide clinical management and surveillance. The test also helps differentiate Spiegler-Brooke syndrome from other inherited skin tumor syndromes with overlapping features.
- Test Code
- 6022
- 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
- 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, it is recommended to provide a detailed clinical history and family pedigree. A genetic counseling session is advised before testing.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using standard venipuncture. For FTA card, a drop of blood is placed on the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample should be transported to the laboratory as per instructions.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the CYLD gene that cause Spiegler-Brooke syndrome. It is used to confirm a clinical diagnosis in individuals presenting with multiple cylindromas or related skin tumors, to provide predictive testing for asymptomatic family members, and to guide clinical management and surveillance. The test also helps differentiate Spiegler-Brooke syndrome from other inherited skin tumor syndromes with overlapping features.
How to Prepare
- For blood: Use EDTA vacutainer, mix gently to prevent clotting.
- For FTA card: Apply one drop of blood onto the card, air dry for at least 30 minutes.
- Label the sample with patient name, date, and unique ID.
- Transport at ambient temperature (15-25°C) for FTA card; blood can be transported at 2-8°C if delayed.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of Spiegler-Brooke syndrome is crucial for surveillance and management of cylindromas, reducing risk of malignant transformation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged delay without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of Spiegler-Brooke syndrome. Family members should be offered predictive testing.
Negative (No pathogenic variant detected)
Reduces likelihood of CYLD-related syndrome, but does not exclude it. Consider other genetic causes or clinical re-evaluation.
Variant of Uncertain Significance (VUS)
Clinical significance is unknown. Additional family studies or functional assays may be needed.
Consult a dermatologist or oncologist if you have multiple skin tumors, especially on the head and neck, or if you have a family history of Spiegler-Brooke syndrome. Genetic counseling is recommended before and after testing.
Limitations
- ⚠This test does not detect all possible mutations; variants in non-coding regulatory regions may be missed.
- ⚠Large genomic rearrangements may not be detected by NGS alone; additional deletion/duplication analysis is recommended.
- ⚠Variants of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠This test is not intended for prenatal diagnosis unless specifically requested.
- ⚠Results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for variants of uncertain significance causing anxiety
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample quantity
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (for blood samples)
- ●Bone marrow transplantation (for blood samples)
Compare With Similar Tests
| Test | CYLD Gene Spiegler-Brooke syndrome NGS Genetic Test | CYLD Gene Single Site Analysis | Multi-Gene Skin Tumor Panel |
|---|---|---|---|
| Comparison | CYLD Gene Spiegler-Brooke syndrome NGS Genetic Test |
Frequently Asked Questions
What is Spiegler-Brooke syndrome?
How is the CYLD gene test performed?
What is the cost of the test?
How long does it take to get results?
Is fasting required before the test?
What sample types are accepted?
Can this test detect all CYLD mutations?
Who should consider this test?
Is genetic counseling provided?
What does a positive result mean?
What does a negative result mean?
Is home sample collection available?
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