Test Price
2,800 AED✅ Home Collection Available
CYB5R3 Gene Methemoglobinemia Type 1 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% analytical sensitivity and specificity via ISO-accredited NGS sequencing.
- Home Collection Logistics: VIP Mobile Phlebotomy with temperature-controlled cold-chain, available daily 8 AM – 11 PM.
- Post-Test Consultation: Complimentary telephone interpretation session with a molecular genetics specialist.
- Insurance Verification: Real-time coverage check via WhatsApp at +971 54 548 8731.
- Pricing: 2,800 AED inclusive of genetic counselling report.
- Turnaround Time: 14–21 Business Days from sample receipt.
Test Overview & Methodology
This molecular diagnostic assay performs full-gene sequencing of the CYB5R3 locus using next‑generation sequencing (NGS) technology. The test detects single‑nucleotide variants, small insertions, and deletions that cause congenital methemoglobinemia type 1 — a disorder impairing the reduction of methemoglobin to functional hemoglobin. Definitive molecular confirmation enables accurate genetic counselling and personalised management planning.
| Parameter | This Test (NGS Full‑Gene Sequencing) | Alternative (Enzyme Activity Assay) |
|---|---|---|
| Diagnostic Resolution | Single‑nucleotide variants, indels — confirms specific mutation | Indirect; may miss heterozygous carriers |
| Turnaround Time | 3–4 weeks | 1–2 weeks (limited clinical utility) |
| Cost (AED) | 2,800 | 1,500–2,000 |
| Guideline Adherence | DHA Preferred | Reference method; not first‑line for carrier detection |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I fully appreciate the diagnostic challenge that unexplained cyanosis and low pulse oximetry present. This NGS‑based CYB5R3 gene test delivers a definitive molecular answer, allowing us to confirm type 1 congenital methemoglobinemia, exclude differential diagnoses, and provide precise recurrence risk estimates for family planning. A positive result must always be correlated with clinical phenotype and co‑inherited modifier genes.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Critical Safety Advisory
- Exclusion Criteria: Patients presenting with acute uncompensated anemia, active haemolysis, or haemodynamic instability require clinical stabilisation before phlebotomy.
- Emergency Presentation: Rapid onset cyanosis accompanied by confusion, dyspnoea, or loss of consciousness necessitates immediate emergency room evaluation.
- Medication Precaution: Do not alter or discontinue methylene blue, ascorbic acid, or any prescribed therapy without direct consultation with your treating physician.
Pre‑Test Requirements
A comprehensive clinical history and pedigree chart are mandatory prior to testing. All patients must undergo a pre‑test genetic counselling session to document family members potentially carrying CYB5R3 gene variants. No fasting or medication adjustment is necessary unless instructed by the referring clinician.
Patient FAQ & Clinical Guidance
1. Who should consider the CYB5R3 gene methemoglobinemia type 1 NGS test?
Individuals with persistent unexplained cyanosis, low pulse oximetry readings despite normal arterial blood gases, or a documented family history of congenital methemoglobinemia should pursue this confirmatory genetic analysis.
2. How does NGS accuracy compare with older enzyme‑based methods?
Our next‑generation sequencing platform achieves over 99.9% analytical sensitivity and specificity, detecting single‑nucleotide variants, indels, and rare or novel alleles that enzyme activity assays routinely miss.
3. What does a positive CYB5R3 mutation result mean for long‑term health?
A positive result confirms hereditary type 1 methemoglobinemia. This condition typically produces mild to moderate cyanosis that can be effectively managed under medical supervision with methylene blue or ascorbic acid as needed. Genetic counselling provides recurrence risk estimates for family members.
4. Can I take this test while on anticoagulant medication?
Yes, routine anticoagulation does not contraindicate a standard venipuncture. However, inform the phlebotomist of all current medications. Home phlebotomy remains available unless the referring clinician advises otherwise.
5. How do I schedule a home blood collection?
Contact our logistics team via WhatsApp at +971 54 548 8731, daily between 8 AM and 11 PM. A temperature‑controlled courier will collect the sample from your residence or workplace.
UAE Regulatory & Data Privacy Adherence
- 🔒 Data Protection: All genetic data is processed in 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 Safety & Consent: Patient consent and clinical governance follow Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- 🏥 Facility Accreditation: DHA Facility License No. 1143 · ISO 9001:2015 Certified · All phlebotomists hold current DHA eligibility.
- 📞 Home Collection Hotline: WhatsApp +971 54 548 8731 (8 AM – 11 PM, daily).
Clinical & Logistical Metadata
| Test Name | CYB5R3 Gene Methemoglobinemia Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 14–21 Business Days |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Sequencing |
| ICD-10-CM Code | D74.0 |
| LOINC Code | 47998-5 |
| DHA Facility License & Laboratory Address | 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
© 2025 DNA Labs UAE – DHA‑licensed molecular diagnostics facility.
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