Test Price
2,800 AEDโ Home Collection Available
CYLD Gene Analysis for Spiegler-Brooke Syndrome (NGS) in UAE
Executive Summary & Core Metrics
Test Overview & Methodology
This CYLD gene analysis employs next-generation sequencing (NGS) to detect germline mutations in the CYLD tumor suppressor gene, which underlies Spiegler-Brooke syndrome (multiple familial trichoepithelioma). The assay provides comprehensive coverage of all coding exons and conserved splice-site regions, enabling early surveillance for associated benign adnexal neoplasms and risk stratification for first-degree relatives. The bioinformatics pipeline is validated against reference standards with analytical sensitivity exceeding 99%.
| Feature | DNA Labs UAE CYLD NGS Test | Closest Alternative (Single Exon Screening) |
|---|---|---|
| Diagnostic Precision | Full gene sequencing with >99% analytical sensitivity and orthogonal Sanger confirmation of all clinically significant variants | Limited to preselected exons; false-negative rate can exceed 30% for private mutations |
| Methodology | Next Generation Sequencing (Illuminaยฎ platform, validated bioinformatics, 150x average depth of coverage) | Conventional Sanger sequencing only; batching delays common and intolerant to mosaic variants |
| Turnaround Time | 21โ28 days (comprehensive clinical report including variant interpretation per ACMG/AMP guidelines) | 42โ56 days if full gene coverage is attempted via sequential Sanger reactions |
Physician Insight & Safety Protocols
โA confirmed CYLD pathogenic variant empowers families with actionable surveillance strategies for skin adnexal tumors. Every genetic finding must be interpreted within the full context of personal dermatologic history and three-generation pedigree. Pre-test counseling ensures patients understand the implications of both positive and negative results.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory
โ ๏ธ Important: Do not alter or discontinue any prescribed medications without consulting your treating physician. This genetic test is designed to inform hereditary risk assessment and does not replace ongoing dermatologic or oncologic surveillance.
Exclusion Criteria & Urgent Referral Indicators
- Exclusion Criteria: Active febrile illness, blood transfusion within the preceding 14 days, or ongoing cytotoxic chemotherapy that may compromise DNA yield from leukocytes.
- Pre-Test Red Flags: Rapidly expanding, ulcerated, or spontaneously bleeding cutaneous lesions; new-onset pain or neurological symptoms. These require immediate dermatologic or surgical evaluation prior to genetic testing.
- Special Populations: Pregnant or breastfeeding individuals can proceed with testing; however, per Federal Decree-Law No. 4 of 2016 on Medical Liability, minors require guardian consent and mandatory genetic counseling.
Patient FAQ & Clinical Guidance
1. What is the purpose of the CYLD Gene NGS test for Spiegler-Brooke syndrome?
This test identifies pathogenic variants in the CYLD tumor suppressor gene to confirm a clinical diagnosis of Spiegler-Brooke syndrome (multiple familial trichoepithelioma). Results inform individualized skin cancer surveillance schedules and enable cascade screening for at-risk family members. Pre-test genetic counseling is mandatory to review potential outcomes and limitations.
2. How is the specimen collected and how long do results take?
A certified phlebotomist collects a whole blood sample (EDTA tube), buccal swab, or dried blood spot on FTA card at your home or clinic via our VIP Mobile Phlebotomy service. The laboratory delivers a comprehensive clinical report within 21โ28 days from sample receipt.
3. Are there any preparation steps or mandatory counseling requirements?
Pre-test genetic counseling with a DHA-licensed genetics specialist is required before sample collection to review your personal and family medical history, discuss possible outcomes (including variants of uncertain significance), and explain implications for biological relatives. No fasting or dietary restrictions are necessary.
4. Will my insurance cover the cost of this genetic analysis?
DNA Labs UAE offers direct insurance billing verification. Please contact our billing team via WhatsApp at +971 54 548 8731 to confirm your coverage eligibility and obtain a pre-authorization estimate before scheduling the collection.
UAE Regulatory & Data Privacy Adherence
This service operates under DHA Facility License No. 1143 and fully complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All genetic data are encrypted, access-restricted, and processed within DHA-audited protocols under ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). Home collection is available daily from 8 AM to 11 PM. For insurance inquiries or to schedule a collection, call or WhatsApp +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | CYLD Gene Analysis for Spiegler-Brooke Syndrome (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21โ28 Days (3โ4 Weeks) |
| Sample Type / Matrix | Whole Blood (EDTA), Buccal Swab, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next Generation Sequencing (Illuminaยฎ Platform, 150x Average Depth) with Sanger Confirmation |
| ICD-10-CM Code | D23.9 |
| LOINC Code | 83403-4 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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