Test Price
2,800 AED✅ Home Collection Available
PAX3 Gene (Waardenburg Syndrome Type 1) Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
This ISO‑certified genetic test sequences the full PAX3 gene using next‑generation sequencing (NGS) to confirm a diagnosis of Waardenburg syndrome type 1. The assay is performed at DNA Labs UAE, a DHA‑licensed facility (license 1143), and includes telephonic post‑test clinical correlation support.
- Diagnostic Accuracy: 99.9% sensitivity via ISO‑accredited NGS processing.
- Logistics: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection (available daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic post‑test interpretation by a consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PAX3 NGS test identifies pathogenic variants in the PAX3 gene associated with Waardenburg syndrome type 1, an autosomal dominant disorder featuring sensorineural hearing loss and pigmentary abnormalities. This assay provides definitive molecular confirmation, enabling targeted clinical surveillance and familial risk assessment. Full gene coverage detects single‑nucleotide variants, small insertions/deletions, and copy‑number changes.
| Feature | PAX3 NGS Test | Alternative (Single‑Gene Sanger) |
|---|---|---|
| Precision | Full gene coverage, detects SNVs, indels, and copy‑number changes | Only small point mutations in exonic regions |
| Methodology | Next‑generation sequencing (NGS) with LC‑MS/MS quality control | Capillary (Sanger) sequencing |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Clinical Report | ACMG/ClinGen annotated, DHA compliant | Basic variant list |
Physician Insight & Safety Protocols
“Molecular diagnosis of Waardenburg syndrome requires careful clinical correlation. A negative result does not exclude the condition if extra‑intestinal features are present. I always advise patients to discuss results with a dermatologist, clinical geneticist, and ENT specialist to create a comprehensive management plan.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA ID: 9294403
Safety Exclusion Criteria
Exclusion Criteria & Emergency Red Flags
- Recent blood transfusion (within 4 weeks) – may confound germline DNA analysis.
- Severe anemia (Hb < 7 g/dL) – postpone collection until stable.
- Active systemic infection or sepsis – delay phlebotomy.
- Emergency Red Flags: Sudden complete hearing loss, acute vision loss, new‑onset ulcerative skin lesions – seek immediate care.
Patient Advisory
Do not discontinue any prescribed medication without consulting your doctor. This test does not replace ongoing clinical care or urgent medical evaluation for sudden symptoms.
Patient FAQ & Clinical Guidance
1. What is the purpose of PAX3 gene testing?
The PAX3 NGS test identifies germline mutations causing Waardenburg syndrome type 1, allowing accurate diagnosis, hearing‑loss surveillance, and informed family planning.
2. How is the sample collected and what is the turnaround time?
We collect a small blood sample during a VIP home phlebotomy visit, and you receive the final clinical report in 3–4 weeks. Buccal swab is also accepted if blood collection is not possible.
3. Is this test covered by UAE health insurance?
We offer direct billing to all major UAE insurers. Confirm your policy coverage by sending a WhatsApp message to +971 54 548 8731 before booking.
4. Who should consider this test?
The test is recommended for individuals with features suggestive of Waardenburg syndrome (e.g., congenital hearing loss, pigmentary abnormalities of skin/hair/iris, dystopia canthorum) and for family members of a confirmed case. It is typically ordered by dermatologists, clinical geneticists, or ENT specialists.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance
This service adheres 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 processes are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. DHA facility license: 1143.
Clinical & Logistical Metadata
| Test Name | PAX3 Gene (Waardenburg Syndrome Type 1) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (3–5 mL in EDTA tube), extracted DNA, or buccal swab |
| Methodology Used | Next‑generation sequencing (NGS) – full gene coverage |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 75166-5 |
| DHA Facility License & Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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التحقق من التغطية التأمينية
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians