Test Price
2,800 AED✅ Home Collection Available
HGD Gene Alkaptonuria Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين HGD لمرض بيلة الكابتون في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
🔬 99.9% Diagnostic Sensitivity – ISO 9001:2015 Accredited Laboratory (Cert: INT/EGQ/2509DA/3139)
🏥 Premium Hospital‑Grade Home Collection via ISO‑Certified Cold‑Chain Logistics & VIP Mobile Phlebotomy (8 AM – 11 PM)
🧑⚕️ Complimentary Telephonic Post‑Test Clinical Guidance with Expert Genetic Interpretation
💳 Direct Insurance Billing Verification – Send your policy via WhatsApp: +971 54 548 8731
ملخص تنفيذي
فحص جيني دقيق لطفرات جين HGD بأحدث تقنيات التسلسل، متوافق مع تشريعات هيئة الصحة بدبي وقانون الخصوصية.
Test Overview
The HGD gene (homogentisate 1,2‑dioxygenase) NGS test identifies pathogenic variants responsible for Alkaptonuria, a rare autosomal recessive metabolic disorder that causes homogentisic acid accumulation, leading to dark urine and ochronosis. يكشف هذا التحليل عن الطفرات المسببة لبيلة الكابتون بدقة عالية.
| Feature | 🏆 Our Test (NGS Panel) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Analytical Sensitivity | >99.9% for single nucleotide variants & small indels | ~98% for targeted regions only |
| Coverage | Full gene coding regions + splice sites | Selected exons, may miss deep intronic variants |
| Turnaround Time | 3–4 weeks | 2–3 weeks (limited coverage) |
Clinical Insight & Safety Protocol
“While this NGS assay delivers definitive molecular confirmation of Alkaptonuria, clinical correlation with symptoms such as darkening urine upon standing and ochronotic joint degeneration remains paramount. I always advise a comprehensive metabolic evaluation alongside genetic results.”
— Dr. PRABHAKAR REDDY, DHA License 61713011
⚠️ DO NOT discontinue any prescribed medication without consulting your attending physician.
Absolute Exclusion Criteria & Emergency Red Flags
- Active bleeding disorder or severe anaemia (for venipuncture)
- Patient unable to give informed consent; for minors, DHA‑compliant guardian consent is mandatory
- Recent transfusion (whole blood) within 2 weeks – may interfere with DNA integrity
- Seek emergency care if you experience sudden severe joint pain, dark/black urine with fever, or acute confusion – these are not attributable to the test itself but may indicate a metabolic crisis.
Pre‑Test Patient Preparation
- Genetic Counselling Mandatory: A session must be completed to draw a pedigree chart of family members affected with Alkaptonuria.
- No fasting required; routine medications may be taken unless instructed otherwise.
- Sample collection options: Venous whole blood, one drop of blood on FTA card, or previously extracted DNA (quality must be verified).
- Specimens are transported under cold‑chain (2‑8 °C) to maintain DNA stability.
Patient FAQ & Clinical Guidance
Q: How does the HGD gene NGS test actually work?
This next‑generation sequencing test reads the entire HGD gene coding region to detect even rare pathogenic mutations with >99.9% analytical accuracy. The DNA is extracted from blood or FTA card, enriched for the HGD gene, sequenced on a high‑throughput platform, and analysed by bioinformatic pipelines against global reference databases. Results are interpreted according to ACMG guidelines.
Q: Who should consider taking this test in the UAE?
Any individual with clinical suspicion of Alkaptonuria (dark urine, ochronosis, unexplained arthritis) or a family history of the condition should seek this test. It is also recommended for carrier screening in consanguineous families, a prevalent scenario in UAE, and for pre‑marital genetic counselling to assess reproductive risk.
يوصى بهذا الفحص لكل من تظهر عليه أعراض بيلة الكابتون أو لديه تاريخ عائلي، خاصة في حالات زواج الأقارب.
Q: What is the turnaround time, and how do I get my results?
Results are delivered within 3 to 4 weeks; the complete report includes variant classification, clinical correlation, and genetic counselling recommendations. You will receive a secure PDF via email, and a DHA‑licensed physician will call to explain the findings. The price is 2800 AED, inclusive of home collection and post‑ consultation.
✔ All services fully comply with Federal Decree‑Law No. 41 of 2024 (Art. 87), UAE CDS Law 2026 for minors, and UAE PDPL data privacy standards. Laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
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