Test Price
2,800 AED✅ Home Collection Available
CYP11B2 Genetic Test for Congenital Hypoaldosteronism (CMO I Deficiency) in UAE – 2800 AED
Executive Summary & Core Metrics
This definitive Next‑Generation Sequencing (NGS) test analyses the entire CYP11B2 gene to confirm Congenital Hypoaldosteronism due to Corticosterone Methyl Oxidase I (CMO I) deficiency, a rare but treatable salt‑wasting disorder. Delivered under ISO 15189 accredited protocols, the test achieves 99.9% diagnostic sensitivity and provides a clinical report within 3–4 weeks, supporting precise treatment and family planning.
Test Overview & Methodology
The CYP11B2 Genetic Test screens for pathogenic variants causing congenital hypoaldosteronism type I (CMO I deficiency), an autosomal recessive disorder that leads to life‑threatening salt wasting in infants. Unlike targeted panels, our full‑gene sequencing identifies both known and novel mutations, delivering the most comprehensive molecular diagnosis available in the UAE.
| Feature | Our NGS Test | Conventional Sanger Sequencing |
|---|---|---|
| Precision | 99.9% sensitivity, full gene coverage | ~97% sensitivity, selected exons only |
| Methodology | Illumina® Next‑Generation Sequencing (NGS) | Sanger capillary electrophoresis |
| Turnaround Time | 3–4 weeks | 6–8 weeks (often outsourced) |
| Clinical Utility | Identifies novel variants, guides precise therapy | Limited to common mutations |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics, I emphasise that a CYP11B2 mutation can silently manifest with severe dehydration, vomiting, and shock in the neonatal period. This test should be interpreted alongside plasma renin, aldosterone, and electrolyte panels – a negative result does not exclude the diagnosis if clinical suspicion is high. The peace of mind that comes from a definitive molecular diagnosis is invaluable for families and physicians alike."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics – DHA Registration ID: 9294403
⚠ Important Safety Advisory
Do not discontinue prescribed mineralocorticoid or sodium supplementation without consulting your specialist. This test provides genetic confirmation; treatment adjustments must be made under expert supervision to avoid adrenal crisis.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients unable to provide informed consent (or guardian consent for minors) without prior genetic counselling.
- Exclusion: Sample collection must be performed by a certified phlebotomist; self‑collection of blood is not accepted.
- ER Red Flag: Infants with poor feeding, lethargy, marked hyponatremia, hyperkalemia, or shock – seek emergency care immediately.
- ER Red Flag: Sudden onset of severe dehydration or arrhythmias in a child with suspected CMO I deficiency.
Patient FAQ & Clinical Guidance
1. What are the symptoms and genetic basis of CMO I deficiency, and how does this test help?
CMO I deficiency is a rare autosomal recessive disorder caused by mutations in the CYP11B2 gene, leading to life‑threatening salt‑wasting crises in neonates. Our NGS test identifies both known and novel variants, enabling definitive diagnosis, carrier testing, and informed prenatal counselling.
2. How is the CYP11B2 genetic test performed and what does a positive result mean?
A simple blood draw (2–3 mL EDTA whole blood) or a single drop on an FTA card is all that is required; DNA is extracted and analysed by Illumina NGS, ensuring 99.9% base‑calling accuracy. A positive result confirms the molecular diagnosis, guides mineralocorticoid therapy, and flags family members for cascade screening.
3. What is the cost, turnaround time, and insurance coverage for this test in the UAE?
The complete NGS analysis is priced at 2800 AED, with a report delivered in 3–4 weeks after sample reception. We offer direct insurance billing through major UAE networks; contact us on WhatsApp at +971 54 548 8731 with your insurance card to verify eligibility.
UAE Regulatory & Data Privacy Adherence
Regulatory & Accreditation Compliance
✅ DHA Facility License No. 1143 · ✅ ISO 15189 Accredited
⚕️ All genetic testing is conducted 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 safety and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. Your genetic data is stored securely and never shared without explicit consent.
📞 Support & Home Collection Scheduling: +971 54 548 8731 (24/7 WhatsApp)
Clinical & Logistical Metadata
| Test Name | CYP11B2 Genetic Test for Congenital Hypoaldosteronism (CMO I Deficiency) |
| Price (AED) | 2800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral Venous Whole Blood (EDTA) or FTA Card – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | Next‑Generation Sequencing (NGS) – Illumina® Platform |
| ICD-10-CM Code | E27.4 |
| LOINC Code | 21621-4 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians