Test Price
2,800 AED✅ Home Collection Available
PAX8 Gene Hypothyroidism, Congenital Nongoitrous Type 2, Familial – Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced Next-Generation Sequencing (NGS) test comprehensively analyzes the entire PAX8 gene for pathogenic variants associated with congenital non-goitrous hypothyroidism type 2, a familial disorder affecting thyroid development. The test delivers the highest diagnostic precision under ISO 9001:2015-accredited conditions, meeting DHA and UAE genetic testing regulations under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative |
|---|---|---|
| Methodology | Next‑Generation Sequencing (Illumina‑certified) | Sanger sequencing or PCR‑based targeted panel |
| Analytical Sensitivity | 99.9% | ~95% |
| Coverage | Full gene + splice sites | Limited exonic hotspots |
| Turnaround Time | 3 – 4 weeks | 4 – 6 weeks |
| Data Privacy Compliance | Full DHA, PDPL, ISO 9001:2015, Federal Law No. 2 of 2019 | Not always guaranteed |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that comprehensive sequencing of the PAX8 gene is crucial for accurate diagnosis of congenital nongoitrous hypothyroidism. However, results must be correlated with clinical findings and thyroid function tests. Always consult a pediatric endocrinologist for management decisions.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA 9294403
Advisory Notes
- Mandatory genetic counselling session with a certified genetic counsellor prior to sample collection.
- Provide detailed family history and pedigree chart of affected relatives.
- Avoid biotin supplements and high-dose vitamin B7 for 24 hours before blood draw (unless physician advises otherwise).
Safety Exclusions & Red Flags
- Exclusion criteria: Active systemic infection, recent blood transfusion (within 4 weeks), or inability to provide informed consent (minors require legal guardian approval per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Seek emergency care immediately if your child exhibits extreme lethargy, difficulty breathing, poor feeding, or hypothermia — potential signs of thyroid crisis unrelated to the test procedure.
Do not discontinue prescribed medication without consulting your doctor.
Patient FAQ & Clinical Guidance
1. What is the PAX8 gene test for congenital hypothyroidism?
The PAX8 Genetic Test detects mutations in the PAX8 gene that cause congenital non-goitrous hypothyroidism, enabling early diagnosis and family screening. A negative result does not exclude other genetic or environmental causes.
2. How is the sample collected, and what is the turnaround time?
A simple blood draw (whole blood EDTA) or buccal swab (DNA FTA card) is collected at your home by a licensed phlebotomist. Results are available in 3–4 weeks from sample receipt.
3. Is this genetic test covered by UAE insurance?
Many UAE insurers cover genetic testing for congenital conditions. We verify your coverage via WhatsApp and offer direct billing where applicable.
UAE Regulatory & Data Privacy Adherence
Compliance Framework: This service strictly 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 genetic data is handled confidentially and securely. DNA Labs UAE operates under DHA Facility License No. 1143 and ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | PAX8 Gene Hypothyroidism, Congenital Nongoitrous Type 2, Familial – Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Whole blood (EDTA) or Buccal swab (DNA FTA card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full gene including splice sites |
| ICD-10-CM Code | E03.1 |
| LOINC Code | 21601-8 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 • Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE • DNA Labs UAE |
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