Test Price
2,800 AED✅ Home Collection Available
SNAI2 Gene (Waardenburg Syndrome Type 2D) Next-Generation Sequencing
Executive Summary & Core Metrics
Accuracy Guarantee:
99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
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 by DHA-licensed clinicians.
Insurance:
Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SNAI2 gene NGS test provides definitive molecular diagnosis of Waardenburg syndrome type 2D, a rare neurocristopathy causing congenital sensorineural hearing loss, heterochromia iridis, and pigmentary disturbances of hair and skin. This comprehensive analysis screens the entire coding region to guide neurologists, clinical geneticists, and otolaryngologists in personalised audiologic and genetic counselling.
| Parameter | Our Test (NGS Full Gene) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Method Precision | 99.9% base-level accuracy; detects single nucleotide variants (SNVs), insertions/deletions (indels), and copy number variants (CNVs) | 99.9% only for pre-defined hotspots; limited to point mutations |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Genomic Coverage | Entire SNAI2 coding exons ±20 bp intronic flanking | Selected exons only based on prior suspicion |
Physician Insight & Safety Protocols
"Molecular confirmation of SNAI2 pathogenic variants is essential for precise audiological rehabilitation, family cascade screening, and avoidance of misdiagnosis. Negative NGS results do not completely exclude deep intronic variants or alternate genetic aetiologies; therefore, comprehensive clinical assessment with audiometry and ophthalmologic evaluation must always guide final management. This test serves as a powerful adjunct, not a replacement for expert neurological and genetic consultation."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Pre-Test Advisory
Clinical Precautions Before Sample Collection
- No dietary restrictions, supplemental modifications, or medication adjustments are required prior to blood collection for this genetic test.
- Do not discontinue any prescribed medication without explicit consultation with your referring physician.
- Minor patients (under 18 years) require written parental or guardian informed consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Exclusion Criteria & Emergency Red Flags
Contraindications for Outpatient Collection
- Active systemic infection with fever exceeding 38.5°C — reschedule collection until febrile episode resolves.
- Known bleeding diathesis or anticoagulant therapy (warfarin, rivaroxaban, apixaban): request finger-stick dried blood spot (FTA card) collection as an alternative to venipuncture.
- Red flags necessitating immediate emergency department evaluation, not genetic testing: acute sudden hearing deterioration, severe vertigo with nystagmus, or blurred vision accompanied by photophobia.
Patient FAQ & Clinical Guidance
1. What does a positive SNAI2 gene NGS result mean for my hearing loss?
A positive SNAI2 mutation confirms Waardenburg syndrome type 2D as the genetic cause of sensorineural hearing loss, enabling targeted audiology interventions, cochlear implant candidacy assessment, and family cascade screening. Genetic counselling is strongly recommended both before and after testing.
2. Is the 2,800 AED cost justified for this genetic test?
At 2,800 AED, this test provides comprehensive NGS sequencing of the entire SNAI2 coding region with clinical interpretation by a DHA-licensed consultant medical geneticist. This eliminates diagnostic uncertainty and avoids repeated specialist consultations and non-diagnostic workups, offering significant long-term value for patients and families.
3. How long will I wait for results after blood collection?
Following sample arrival at our ISO 9001:2015 accredited laboratory, you will receive a secure electronic report within 3 to 4 weeks. Expedited verbal preliminary results can be coordinated with your referring clinician if the matter is clinically urgent.
4. Can this test be performed during pregnancy?
Yes, the SNAI2 gene NGS test can be performed during pregnancy using maternal blood. However, results should be interpreted in conjunction with prenatal ultrasound findings and discussed with a maternal-fetal medicine specialist. Informed consent in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability is required.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
DNA Labs UAE operates under DHA Facility License Number 1143 and adheres strictly to 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, securely stored, and never shared with third parties without explicit patient consent. Clinical testing safety protocols and patient consent procedures comply with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | SNAI2 Gene (Waardenburg Syndrome Type 2D) Next-Generation Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA lavender-top tube) or saliva (Oragene DNA collection kit) |
| Methodology Used | Next-Generation Sequencing (NGS) — Whole gene coding exons ±20 bp intronic flanking regions |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 21636-6 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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