Test Price
2,800 AED✅ Home Collection Available
ATP6V0A4 Gene Distal Renal Tubular Acidosis (Autosomal Recessive) NGS Test in UAE
Executive Summary & Core Metrics
Executive Summary: High-precision genetic sequencing assay for autosomal recessive distal renal tubular acidosis, fully compliant with DHA regulatory standards and ISO 9001:2015 certification. Includes genetic counselling and temperature-controlled home collection logistics.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 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 for result interpretation by DHA-licensed consultant medical geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ATP6V0A4 gene test utilises Next-Generation Sequencing (NGS) to detect pathogenic mutations causing autosomal recessive distal renal tubular acidosis (dRTA). This condition impairs the kidney's ability to excrete acid, leading to metabolic acidosis. The assay provides definitive molecular diagnosis, guiding targeted management strategies for affected individuals and at-risk family members. Comprehensive coverage of all coding exons and flanking splice-site regions ensures high diagnostic yield.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | NGS 100% coverage of coding regions ±10 bp splice sites | Sanger sequencing of selected exons (limited sensitivity) |
| Methodology | Illumina NovaSeq with dual-state bioinformatics | PCR-based single-gene testing |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Genetic Counselling | Included pre- and post-test teleconsultation | Often not included |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA ID: 9294403): “A pathogenic ATP6V0A4 variant confirms the molecular diagnosis of autosomal recessive distal renal tubular acidosis, yet it must be interpreted alongside serum bicarbonate, potassium levels, and nephrology assessment. This genetic test empowers families with precise information for medical management and reproductive planning. Continue all prescribed therapies under your physician's supervision.”
Medication Advisory
Do not modify or cease any prescribed medications, including potassium citrate or sodium bicarbonate, without direct consultation with your nephrologist. This genetic diagnostic assay is intended to inform clinical care, not to replace ongoing medical treatment.
Exclusion Criteria & ER Red Flags
- Exclusion: Acute sepsis, severe anaemia (Hb <7 g/dL) precluding safe phlebotomy; inability to provide informed consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Recent allogeneic blood transfusion (<4 weeks) may cause donor DNA interference – postpone testing.
- ER Red Flag: If you experience sudden swelling, difficulty breathing, or anaphylaxis after sample collection, seek emergency care immediately.
Patient FAQ & Clinical Guidance
1. What is the ATP6V0A4 gene test and why is it recommended for my child with persistent acidosis?
Snippet Answer: The ATP6V0A4 gene test is a high-precision NGS sequencing assay that detects mutations in the gene responsible for autosomal recessive distal renal tubular acidosis, substantially confirming or ruling out the hereditary basis of your child’s unexplained metabolic acidosis. A definitive molecular diagnosis enables tailored treatment and family counselling.
2. How accurate is the NGS test compared to older genetic methods?
Snippet Answer: Our NGS platform achieves >99.9% analytical sensitivity and specificity for single nucleotide variants and small indels, surpassing traditional Sanger sequencing that might miss deep intronic or large deletion mutations. This ensures reliable results for clinical decision-making.
3. What sample is required, and is the home collection service safe for my baby?
Snippet Answer: We accept a simple blood draw (whole blood in EDTA tube, extracted DNA, or a finger-prick on an FTA card) collected by a DHA-licensed phlebotomist during a hygienic home visit. The procedure is minimally invasive and safe even for infants under proper aseptic technique with VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily 8 AM – 11 PM).
4. What pre-test preparation is needed before the genetic test?
Snippet Answer: A mandatory pre-test genetic counselling session is scheduled to draw a pedigree chart and discuss implications. Provide a complete list of all prescribed drugs and supplements, especially alkali therapy, to the counsellor. Fasting is not required. Avoid recent blood transfusion (<4 weeks). Sample type accepted: whole blood (3 mL in EDTA tube), extracted DNA, or one drop of blood on an FTA card.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
This diagnostic service operates under the regulatory oversight of the Dubai Health Authority (DHA Facility License No: 1143). All patient data is handled in strict compliance 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. Clinical testing safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Genetic data is encrypted during transmission and storage, with access limited to authorised medical personnel only.
Clinical & Logistical Metadata
| Test Name | ATP6V0A4 Gene Distal Renal Tubular Acidosis (Autosomal Recessive) NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq Platform |
| ICD-10-CM Code | N25.89 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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