AQP2 Gene (Nephrogenic Diabetes Insipidus, Autosomal) Genetic Test
Test Price
2,800 AED✅ Home Collection Available
AQP2 Gene (Nephrogenic Diabetes Insipidus, Autosomal) Genetic Test in UAE – 2800 AED – DHA Licensed
Executive Summary & Core Metrics
Executive Summary
- 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 with a DHA-licensed Consultant Medical Geneticist.
- Insurance & Billing: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test sequences the entire AQP2 gene using Next-Generation Sequencing (NGS) to identify pathogenic variants causing hereditary nephrogenic diabetes insipidus (autosomal recessive or dominant). It is the definitive molecular diagnosis for patients presenting with polyuria, polydipsia, and hypernatremia of renal origin. A comprehensive clinical history focusing on polyuria onset and a family pedigree are drawn during a mandatory genetic counselling session prior to sample collection.
| Feature | Our AQP2 Genetic Test | Sanger Sequencing (Closest Alternative) |
|---|---|---|
| Methodology | Full gene NGS (Next-Generation Sequencing) | Targeted single-exon Sanger sequencing |
| Detection Power | Detects known and novel variants across all exons & splice sites | Limited to pre-specified mutation hotspots; misses novel variants |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Clinical Sensitivity | 99.9% for coding region mutations | ~80% (misses deep intronic/novel changes) |
| Price (AED) | 2,800 | 2,500 – 3,200 |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh – Consultant Medical Genetics (DHA Registration ID: 9294403): “Every case of suspected nephrogenic diabetes insipidus deserves a thorough genetic evaluation to guide family counselling and avoid unnecessary vasopressin trials. This NGS test will reveal whether an AQP2 mutation underlies the resistance, but always correlate molecular findings with a detailed fluid balance chart and serum sodium levels. I strongly recommend involving a nephrologist or endocrinologist before acting on results.”
Advisory: Medication & Clinical Management
⚠️ Medication Advisory
Do not discontinue prescribed medication (e.g., thiazides, amiloride) without consulting your doctor. Abrupt interruption can trigger severe electrolyte imbalances.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide a valid blood specimen; lack of pre-test genetic counselling and signed informed consent.
- Exclusion (Minors): Testing strictly follows UAE regulatory frameworks – guardian consent and paediatric specialist referral are mandatory.
- ER Red Flags: If the patient develops severe dehydration, intractable vomiting, altered consciousness, or sodium >155 mmol/L, seek immediate emergency care.
- Clinical Safety: All procedures are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient consent and safety are prioritised.
Patient FAQ & Clinical Guidance
1. What does the AQP2 gene test detect?
Direct Answer: It detects pathogenic variants in the entire AQP2 gene that cause hereditary nephrogenic diabetes insipidus, explaining congenital polyuria and polydipsia.
2. How is the test performed and how long does it take?
Direct Answer: A blood sample is collected at home by a VIP mobile phlebotomist under temperature-controlled cold-chain logistics. DNA is extracted and NGS is performed, with results available in 3–4 weeks.
3. Is genetic counselling necessary before testing?
Direct Answer: Yes, a mandatory pre-test genetic counselling session is required to draw a family pedigree and discuss the implications for relatives. This is conducted by our Consultant Medical Geneticist.
4. Can I proceed directly with the blood draw without prior counselling?
Direct Answer: No. Informed consent and pre-test counselling are mandatory under UAE Federal Decree-Law No. 4 of 2016. The counselling session ensures you understand the scope and implications of the genetic analysis.
5. Are my genetic data protected by UAE privacy laws?
Direct Answer: Yes. All genetic data are processed under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning ICT in health fields. Your data remain strictly confidential.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This genetic test is performed under DHA Facility License No. 1143. All clinical data handling 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. Patient consent and clinical safety follow Federal Decree-Law No. 4 of 2016 on Medical Liability. ISO 9001:2015 accreditation (Cert: INT/EGQ/2509DA/3139) further ensures quality management across the testing lifecycle.
Clinical & Logistical Metadata
| Test Name | AQP2 Gene (Nephrogenic Diabetes Insipidus, Autosomal) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Sequencing |
| ICD-10-CM Code | N25.1 |
| LOINC Code | 90219-3 |
| 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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⚕️ Medical Disclaimer
This test information is for educational purposes only and does not constitute medical advice. Results should be interpreted by a qualified healthcare professional. Always consult with a DHA-licensed physician for diagnosis and treatment decisions.
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All reports reviewed by DHA-Certified physicians