Test Price
2,800 AED✅ Home Collection Available
RPIA Gene Ribose 5‑Phosphate Isomerase Deficiency Genetic Test in UAE
2,800 AED | 2026 DHA Guidelines
ISO 9001:2015 Certified
تحليل جين RPIA لنقص إيزوميراز الريبوز 5-فوسفات في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
- 🔬 Clinical Accuracy: 99.9% Diagnostic Sensitivity via ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited NGS processing, ensuring definitive RPIA gene analysis.
- 🧊 Premium Logistics: Paid Hospital‑Grade Home Collection through ISO‑certified cold‑chain phlebotomy (DNA FTA Card, Whole Blood, or Extracted DNA) and VIP Mobile Phlebotomy.
- 🩺 Clinical Guidance: Post‑test telephonic clinical correlation session with a consultant to interpret results and plan next steps.
- 📋 Insurance Direct Billing: Instant verification via WhatsApp +971 54 548 8731.
Clinical Overview
التشخيص الجزيئي المتقدم: The RPIA gene Next‑Generation Sequencing test provides a comprehensive analysis of the entire coding region to identify pathogenic variants underlying ribose 5‑phosphate isomerase deficiency. This rare autosomal recessive disorder of the pentose phosphate pathway typically presents with hemolytic anemia, neonatal jaundice, and progressive neurological impairment. Early molecular confirmation enables precise clinical management and genetic counselling for families in the UAE.
يقوم تحليل جين RPIA بتسلسل الجينوم الكامل للكشف عن الطفرات المسببة لنقص إنزيم إيزوميراز الريبوز 5-فوسفات، مما يسمح بتأكيد التشخيص قبل ظهور الأعراض الشديدة وتوجيه خطة العلاج بدقة عالية.
| Feature | Our NGS Test | Standard Sanger Sequencing |
|---|---|---|
| Methodology | Full gene NGS with high coverage & deletion/duplication analysis | Targeted Sanger – limited to known hotspots, may miss large rearrangements |
| Sensitivity | >99.9% for single nucleotide variants, indels, and CNVs | ~99% for point mutations only within sequenced regions |
| Turnaround Time | Results in 3–4 Weeks | Often 6–8 weeks due to iterative analysis |
Physician Insight & Safety Protocol
“As a clinical consultant, I stress that a positive RPIA mutation must be correlated with biochemical markers and family history; a negative result does not entirely exclude the disease if clinical suspicion remains high. This test is a vital piece of the diagnostic puzzle, but it must never replace thorough metabolic and neurological evaluation.” – Dr. PRABHAKAR REDDY (DHA License: 61713011)
⚠️ Medication Warning
Do not discontinue any prescribed medication or alter your treatment plan based on genetic test results without consulting your managing physician. Sudden changes can trigger metabolic decompensation.
🚨 Exclusion Criteria & Emergency Red Flags
- Inability to provide informed consent for genetic testing (guardian consent required for minors per UAE CDS Law 2026).
- No clinically suspected metabolic disorder or family history of RPIA deficiency – screening without indication is not recommended.
- If the patient is experiencing an acute hemolytic crisis, severe jaundice, or sudden neurological deterioration, seek emergency medical care immediately – do not delay for test scheduling.
- Post‑test counselling is mandatory; results must be interpreted by a specialist in metabolic genetics.
Frequently Asked Questions (Patient & Clinician)
What exactly does the RPIA gene test detect?
This NGS test fully sequences the RPIA gene to identify pathogenic mutations causing ribose 5‑phosphate isomerase deficiency, a metabolic disorder linked to hemolytic anemia and neurological symptoms.
يقوم تحليل جين RPIA بتحديد الطفرات المرضية المسببة لنقص إنزيم إيزوميراز الريبوز 5-فوسفات، مما يؤكد التشخيص ويساعد في توجيه العلاج والاستشارة الوراثية.
What sample types are accepted and how is collection arranged?
Samples include whole blood, extracted DNA, or a single drop of blood on an FTA Card – all collected via our ISO‑certified cold‑chain home phlebotomy service available 8 AM to 11 PM.
يمكن جمع عينة الدم الكامل، أو الحمض النووي المستخلص، أو قطرة دم على بطاقة FTA من خلال خدمة السحب المنزلي المعتمدة من 8 صباحًا حتى 11 مساءً.
What is the turnaround time and total cost?
Results are delivered within 3 to 4 weeks at a total price of 2,800 AED, inclusive of a mandatory pre‑ genetic counselling session as per DHA requirements.
تظهر النتائج في غضون 3 إلى 4 أسابيع بتكلفة إجمالية 2800 درهم، تشمل جلسة استشارة وراثية إلزامية قبل الفحص وفقًا لتعليمات هيئة الصحة بدبي.
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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All reports reviewed by DHA-Certified physicians