Test Price
2,800 AED✅ Home Collection Available
RPIA Gene Ribose 5-Phosphate Isomerase Deficiency Genetic Test in UAE — 2,800 AED
Executive Summary & Core Metrics
- 🔬 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: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM, utilizing whole blood, extracted DNA, or FTA Card.
- 🩺 Clinical Guidance: Post-test telephonic clinical correlation session with a consultant genetics specialist to interpret results and plan next steps.
- 📋 Insurance Direct Billing: Instant verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
Advanced Molecular Diagnosis: 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.
| 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 Protocols
“As a consultant medical genetics specialist, I emphasize 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 NGS analysis is a vital component of the diagnostic pathway, yet it must always be integrated with thorough metabolic and neurological evaluation.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Pre-Test Advisory
⚠️ 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. Clinical correlation with a metabolic specialist is mandatory before any therapeutic adjustment.
Exclusion Criteria & Emergency Red Flags
🚨 Exclusion Criteria & Emergency Red Flags
- Inability to provide informed consent for genetic testing (guardian consent required for minors as per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- 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.
Patient FAQ & Clinical Guidance
1. 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. Early molecular confirmation allows for precise clinical management and genetic counselling.
2. 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 VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection service available daily from 8 AM to 11 PM. Our ISO-certified phlebotomists ensure sterile, comfortable in-home blood draw.
3. 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. The price covers the full NGS analysis, clinical interpretation, and a post-test telephonic consultation with a genetics specialist.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Security
All genetic testing processes at DNA Labs UAE fully comply with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring that your genetic data is encrypted, stored securely, and never shared without explicit consent. We also adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, guaranteeing that all electronic health records and diagnostic data are managed under the highest cybersecurity standards. Clinical governance follows Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient safety and professional accountability at every stage of the diagnostic pathway.
Clinical & Logistical Metadata
| Test Name | RPIA Gene Ribose 5-Phosphate Isomerase Deficiency NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Spot |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Plus Deletion/Duplication Analysis |
| ICD-10-CM Code | E74.8 |
| LOINC Code | 92252-5 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab Branding: DNA Labs UAE |
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