Test Price
2,800 AED✅ Home Collection Available
APRT Gene Adenine Phosphoribosyltransferase Deficiency Genetic Test in UAE
Executive Summary & Core Metrics
DNA Labs UAE presents a definitive genetic test for diagnosing adenine phosphoribosyltransferase deficiency with 99.9% diagnostic sensitivity, leveraging Next Generation Sequencing and ISO 9001:2015 certified processing (Cert: INT/EGQ/2509DA/3139).
Test Overview & Methodology
The APRT gene test employs Next Generation Sequencing to detect pathogenic variants responsible for adenine phosphoribosyltransferase deficiency, a rare autosomal recessive metabolic disorder causing 2,8-dihydroxyadenine kidney stones and progressive chronic kidney disease. This comprehensive analysis covers the entire coding region and splice sites to identify single nucleotide variants, small insertions, and deletions.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative (Traditional) |
|---|---|---|
| Precision | 99.9% NGS analytical sensitivity & specificity (full gene coverage) | Single‑enzyme assay; misses many heterozygous mutations |
| Methodology | NGS (Next Generation Sequencing), validated by LC‑MS/MS confirmatory metabolomics | Biochemical enzyme activity in RBC; not confirmatory for carrier status |
| Turnaround Time | 3–4 weeks (ISO cold‑chain returns) | 4–6 weeks; often requires overseas referral |
| UAE Regulatory Fit | Fully DHA/MOHAP pre‑approved, ISO 9001:2015 laboratory | May lack local reporting compliance |
Pre-Test Preparation
A genetic counselling session is mandatory to draw a pedigree chart of family members affected with adenine phosphoribosyltransferase deficiency. This session will be arranged after booking. No fasting required. One drop of blood on an FTA card, whole blood, or previously extracted DNA is accepted.
Physician Insight & Safety Protocols
"As a consultant in medical genetics, I emphasize that APRT deficiency genetic testing must be interpreted alongside kidney stone composition analysis, renal function parameters, and comprehensive family history. A confirmed genetic diagnosis enables allopurinol therapy and dietary purine restriction, significantly reducing nephrolithiasis recurrence and preserving renal function. However, patients should never discontinue prescribed urate-lowering medications without consulting their physician. Genetic information empowers prevention, but clinical correlation remains essential."
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Exclusion Criteria & Emergency Red Flags
⚠ Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Active fever >38°C, current anticoagulant therapy (risk of bruising), known bleeding disorders, inability to provide informed consent (or guardian consent for minors).
- Pediatric Note: For children under 2 years, home collection requires a paediatrician's referral and guardian presence.
- ER Red Flags (seek immediate medical attention, not just testing): Sudden severe flank pain, macroscopic hematuria, decreased urine output, confusion, or signs of acute renal failure.
These criteria ensure patient safety and sample integrity. If you experience any of the above, contact emergency services or visit the nearest hospital emergency department.
Patient FAQ & Clinical Guidance
1. What is the purpose of APRT deficiency genetic testing?
This test detects pathogenic variants in the APRT gene to confirm adenine phosphoribosyltransferase deficiency, a rare metabolic disorder causing recurrent 2,8-dihydroxyadenine kidney stones and chronic kidney disease. By sequencing the entire coding region, the test identifies even rare mutations that biochemical enzyme assays miss. A positive result enables targeted therapy with allopurinol and dietary purine restriction, dramatically reducing stone recurrence and preserving kidney function.
2. How is the sample collected and transported in the UAE?
A certified phlebotomist from DNA Labs UAE arrives at your home in a fully equipped mobile clinic unit between 8 AM and 11 PM, collects a blood sample or FTA card spot, and transports it in an ISO-verified temperature-controlled cold-chain container (2–8°C) directly to our Dubai Healthcare City laboratory. We serve all seven emirates with same-day booking available via WhatsApp until 9 PM. The courier ensures tamper-evident packaging, fully compliant with UAE PDPL data privacy standards during sample transfer.
3. When can I expect results and what do they mean?
Results are delivered within 3–4 weeks in a DHA-compliant report that classifies variants as pathogenic, likely pathogenic, or variant of uncertain significance according to ACMG guidelines. A negative report means no disease-causing variant was found, which may rule out APRT deficiency unless a deep intronic mutation is present. A telephonic consultation with our genetic counsellor is included to help you understand the report, discuss inheritance patterns, and plan next steps including family screening if indicated.
4. What clinical conditions are associated with APRT deficiency?
Adenine phosphoribosyltransferase deficiency (OMIM #102600) typically presents with recurrent radiolucent kidney stones composed of 2,8-dihydroxyadenine, chronic kidney disease, and in severe cases, end-stage renal failure. Onset can range from infancy to adulthood. The condition is often misdiagnosed as uric acid nephrolithiasis due to stone radiolucency. Genetic confirmation through APRT gene sequencing is the gold standard for definitive diagnosis and appropriate clinical management.
5. Is insurance coverage available for this genetic test?
We offer direct billing verification with major UAE insurance providers. Please contact our billing team via WhatsApp at +971 54 548 8731 (Sunday–Monday, 8 AM–11 PM) to check your specific insurance coverage and obtain a pre-authorization if required. Out-of-pocket payment is also accepted at 2800 AED for the complete testing service including genetic counselling, sample collection, sequencing, and post-test consultation.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE complies with all applicable UAE federal data protection and healthcare regulations. Patient genetic data is processed and stored in full accordance 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 protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic testing is conducted under the supervision of a DHA-licensed consultant medical geneticist using ISO 9001:2015 certified workflows (Cert: INT/EGQ/2509DA/3139) at our Dubai Healthcare City facility (DHA Facility License No. 1143).
Clinical & Logistical Metadata
| Test Name | APRT Gene Adenine Phosphoribosyltransferase Deficiency Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood, FTA Card Spot, or Previously Extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) with LC-MS/MS Confirmatory Metabolomics |
| ICD-10-CM Code | E79.8 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians