Test Price
2,800 AED✅ Home Collection Available
ATP6V1B1 Gene Renal Tubular Acidosis with Deafness Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
This UAE‑licensed genetic test provides definitive diagnosis of ATP6V1B1‑linked distal renal tubular acidosis with sensorineural deafness using state‑of‑the‑art Next‑Generation Sequencing (NGS). Our ISO 9001:2015 certified laboratory guarantees 99.9% diagnostic sensitivity, backed by DHA‑compliant telephonic genetic counselling, government‑approved home blood collection, and direct insurance billing verification. Results are delivered in 3–4 weeks to facilitate proactive renal and audiological management.
Test Overview & Methodology
The ATP6V1B1 gene test analyses the full coding region to detect pathogenic variants responsible for autosomal recessive distal renal tubular acidosis (dRTA) with bilateral sensorineural hearing loss. This NGS assay is indispensable for confirming clinical suspicion, carrier testing, and prenatal diagnosis, and is typically ordered by nephrologists, genetic counsellors, and paediatricians in the UAE.
| Feature | Our Test (ATP6V1B1 NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (Illumina) with CNV analysis | Sanger sequencing of selected exons only |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price | 2800 AED (Insurance Direct Billing) | ~2200 AED (Limited insurance coverage) |
| Variant Detection | SNVs, indels, large deletions/duplications | Only point mutations and small indels |
Physician Insight & Safety Protocols
“As a DHA‑licensed consultant in medical genetics, I emphasise that ATP6V1B1 genetic testing provides precise molecular confirmation of dRTA with deafness; however, clinical correlation with metabolic panels, audiometry, and renal imaging remains essential. Patients should never stop prescribed bicarbonate or electrolyte therapy solely based on genetic results. Always consult your treating nephrologist or geneticist for integrated care.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
🛑 Do Not Discontinue Prescribed Medication
Never stop taking prescribed bicarbonate, potassium citrate, or electrolyte supplements without explicit instruction from your treating physician. Sudden cessation can precipitate life‑threatening metabolic acidosis.
Safety Exclusion & Red Flags
- Exclusion Criteria: This test is not indicated for acute renal failure or life‑threatening metabolic emergencies. Genetic testing should be deferred until the patient is clinically stable.
- Minors: Parental or legal guardian consent is mandatory in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Red Flags: Seek urgent medical attention if you experience severe confusion, Kussmaul breathing, or sudden worsening of hearing loss—these may indicate a metabolic acidosis crisis.
Patient FAQ & Clinical Guidance
1. What is the ATP6V1B1 gene test, and who should consider it?
Snippet: This DNA test identifies ATP6V1B1 mutations causing renal tubular acidosis with deafness, crucial for diagnosis and family planning. It is recommended for individuals with unexplained metabolic acidosis, sensorineural hearing loss, or a positive family history. UAE patients with suspected dRTA can use this test to confirm the genetic cause and guide treatment.
2. How is the test performed, and what preparation is required?
Snippet: A simple blood draw or cheek swab is collected by our DHA‑licensed phlebotomist at home (VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily 8 AM – 11 PM). No fasting required. You only need to provide a detailed medical history and a list of current medications before the genetic counselling session. The sample is processed using NGS with results ready in 3–4 weeks.
3. What do the results mean, and how are they delivered?
Snippet: Results are reported as positive (pathogenic variant detected), negative, or variant of uncertain significance, interpreted by a clinical geneticist. You will receive a secure PDF report and a complimentary telephonic consultation with our genetic counsellor to explain the findings and discuss next steps, including family screening and management.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This test and its associated workflows comply fully 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. Patient genetic data is encrypted, stored securely, and processed only with explicit consent. Clinical safety and consent procedures are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. The Dubai Health Authority (DHA) Facility License No. 1143 ensures all operations meet UAE healthcare standards.
Clinical & Logistical Metadata
| Test Name | ATP6V1B1 Gene Renal Tubular Acidosis with Deafness Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole blood (EDTA) or buccal swab |
| Methodology Used | Next‑Generation Sequencing (Illumina) with CNV analysis |
| ICD-10-CM Code | N25.89 (Distal renal tubular acidosis) |
| LOINC Code | 21636-6 (DNA analysis) |
| 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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