Test Price
2,800 AEDโ Home Collection Available
SOX10 Gene Waardenburg Syndrome Type 4C Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SOX10 Gene Waardenburg Syndrome Type 4C NGS Test sequences the entire SOX10 coding region using Next Generation Sequencing (NGS), providing unparalleled accuracy for detecting pathogenic variants associated with Waardenburg-Shah syndrome. It is indicated for individuals with clinical suspicion of Waardenburg syndrome type 4C, including sensorineural hearing loss, pigmentation abnormalities, and Hirschsprung disease.
| Feature | Our SOX10 NGS Test | Standard Single-Gene Sanger Sequencing |
|---|---|---|
| Precision | Full gene sequencing, detects all mutation types (SNVs, indels, CNVs) with 99.9% sensitivity | Targeted exon analysis; may miss intronic variants and large deletions |
| Method | Next Generation Sequencing (NGS) on Illumina platform, validated bioinformatics pipeline | Sanger sequencing of selected exons |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
Physician Insight & Safety Protocols
A Note from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403)
โGenetic confirmation of Waardenburg syndrome type 4C requires nuanced interpretation. This test offers definitive molecular evidence, but clinical correlation with audiometry, ophthalmologic assessment, and family history remains essential. I strongly advise against making any treatment decisions without a comprehensive genetic counseling session.โ
Advisory: Informed Consent
Informed Consent Required
Per Federal Decree-Law No. 4 of 2016 on Medical Liability, all genetic testing requires explicit written informed consent. For minors, consent must be obtained from legal guardians after pre-test genetic counseling. The consent process includes discussion of potential incidental findings, data handling, and the right to decline testing.
Exclusion Criteria & Red Flags
- This test is not for emergency diagnosis. If you or your child experiences severe abdominal distension, vomiting, or signs of toxic megacolon (Hirschsprung-associated enterocolitis), seek immediate emergency care.
- Pregnancy or blood transfusion within 2 weeks may affect DNA extraction from blood; a buccal swab alternative is available.
- Individuals with known bleeding disorders or on anticoagulant therapy should consult their physician before blood draw; buccal swab may be used as an alternative.
Patient FAQ & Clinical Guidance
1. What is the SOX10 Gene Waardenburg Syndrome Type 4C Genetic Test?
It is a comprehensive NGS test that analyzes the entire SOX10 gene to detect pathogenic mutations responsible for Waardenburg syndrome type 4C, a rare genetic disorder characterized by hearing loss, pigmentation changes, and Hirschsprung disease.
2. Who should consider this test?
Individuals with clinical signs of Waardenburg syndrome (sensorineural hearing loss, heterochromia iridis, white forelock) and/or family history of Hirschsprung disease should consider this genetic test for definitive diagnosis and familial risk assessment.
3. How is the sample collected?
A simple blood draw (3โ5 mL in EDTA tube) or a buccal swab can be collected at our DHA-licensed facility or via our VIP mobile phlebotomy service with cold-chain transport, ensuring comfort and sample integrity.
4. What is the turnaround time for results?
Results are available within 3 to 4 weeks from sample receipt. A preliminary report may be issued earlier upon request.
5. Will my insurance cover this test?
We offer direct billing verification for many insurance plans. Please contact us via WhatsApp at +971 54 548 8731 to check your coverage.
UAE Regulatory & Data Privacy Adherence
Data Protection: This service 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 is encrypted and stored in secure servers within the UAE.
Medical Liability: Diagnostic procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient safety and informed consent.
Accreditation: ISO 9001:2015 Certified (INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | SOX10 Gene Waardenburg Syndrome Type 4C Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) or Buccal Swab; VIP Mobile Phlebotomy & Cold-Chain Home Collection Available |
| Methodology Used | Next Generation Sequencing (NGS) โ Illumina Platform |
| ICD-10-CM Code | Q87.89 (Other specified congenital malformation syndromes โ Waardenburg syndrome type 4C) |
| LOINC Code | 94850-3 (SOX10 gene mutation analysis) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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