Test Price
2,800 AED✅ Home Collection Available
SOX10 Gene Waardenburg Syndrome Type 2E Genetic Test in UAE | 2,800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
Executive Summary
- Diagnostic Accuracy: 99.9% sensitivity via ISO-compliant NGS processing in a DHA-licensed laboratory.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily 8 AM – 11 PM.
- Clinical Guidance: Complimentary telephonic genetic counseling session post-report for result interpretation.
- Insurance Support: Direct insurance verification and pre-authorization via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The SOX10 Gene Waardenburg Syndrome Type 2E NGS Test is a comprehensive next-generation sequencing analysis that detects pathogenic variants in the SOX10 gene associated with Waardenburg syndrome type 2E (WS2E). This test helps confirm a clinical diagnosis, guide management of hearing loss and pigmentary abnormalities, and inform genetic counseling for families in the UAE.
Relevant Clinical Specialists: This test is interpreted in collaboration with Clinical Geneticists for diagnosis and variant interpretation, Dermatologists for pigmentary anomalies such as heterochromia iridis, white forelock, and skin hypopigmentation, and Otolaryngologists for sensorineural hearing loss management and cochlear implant evaluation.
| Feature | Our Test (UAE Accredited) | Alternative (Conventional Sanger Sequencing) |
|---|---|---|
| Methodology Precision | NGS – Full gene coverage, high sensitivity 99.9% | Sanger – limited to known hotspots, lower resolution |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Clinical Utility | Detects novel variants, copy number changes, and deep intronic mutations | Misses variants outside exon boundaries; may require multiple assays |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics specializing in hereditary disorders, I emphasize that the SOX10 gene test provides definitive diagnostic clarity for Waardenburg syndrome type 2E. However, results must always be interpreted alongside audiologic, dermatologic, and family history data. A pathogenic variant confirms the diagnosis, but a negative result does not completely exclude the condition if clinical suspicion is high. Patients should continue all prescribed therapies until discussed with their managing specialist."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory
Important Clinical Advisory
This genetic test is intended for diagnostic clarification and does not replace ongoing medical management. Continue all prescribed treatments, including hearing amplification devices and dermatologic regimens, unless your specialist explicitly advises otherwise. Sudden changes in hearing or vision warrant immediate medical evaluation.
Exclusion Criteria & Emergency Red Flags
Contraindications and Precautions
- Active febrile illness requiring acute care – postpone sample collection until stable.
- Recent blood transfusion (<4 weeks) may interfere with genomic DNA quality.
- If the patient is unable to provide informed consent, legal guardian consent is mandatory per Federal Decree-Law No. 4 of 2016 on Medical Liability and UAE PDPL regulations for minors.
- Seek emergency attention if: Sudden sensorineural hearing loss, acute vertigo, or signs of intracranial complication develop.
Patient FAQ & Clinical Guidance
1. What does the SOX10 gene NGS test detect and how accurate is it?
Our NGS test sequences the entire SOX10 coding region with 99.9% diagnostic sensitivity, reliably identifying single nucleotide variants, small indels, and exon-level deletions. The high depth of coverage minimizes false negatives and ensures accurate detection even in low-quality DNA from FTA cards or whole blood. Results are interpreted according to ACMG guidelines and validated in a DHA-licensed facility.
2. How should I prepare for the test and is a referral required in the UAE?
No special dietary preparation is needed; however, a genetic counseling session is strongly recommended before sample collection to draw a detailed pedigree chart. A physician's referral is advisable but not mandatory; our team coordinates with your dermatologist or geneticist to ensure clinically relevant interpretation. Home collection includes a certified phlebotomist who ensures cold-chain transport at 2–8°C.
3. How will I receive my results and what follow-up is provided?
Results are delivered within 3–4 weeks via a secure electronic report, followed by a complimentary telephonic clinical guidance session with our genetic counselor team. The report includes variant classification, clinical significance, and recommendations for specialist referral. For minors, parental consent is managed in full compliance with UAE PDPL and Federal Law No. 2 of 2019. We also verify insurance coverage and handle direct billing for most major insurers.
UAE Regulatory & Data Privacy Adherence
This service is fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing the processing of personal data, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields which regulates health data security and electronic medical records. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our facility operates under DHA Facility License No. 1143, is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), and follows ACMG guidelines for variant interpretation.
Clinical & Logistical Metadata
| Test Name | SOX10 Gene Waardenburg Syndrome Type 2E NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole blood (3–5 mL in EDTA), Extracted DNA (≥1 μg), or one drop blood on FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full gene coverage with 99.9% sensitivity |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 21631-3 |
| 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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