Test Price
2,800 AED✅ Home Collection Available
CYP11B2 Gene Sequencing for Congenital Hypoaldosteronism (CMO II Deficiency) – Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test analyzes the entire CYP11B2 gene to detect pathogenic variants causing corticosteroid methyl oxidase II (CMO II) deficiency, a rare congenital form of isolated hypoaldosteronism. Early molecular diagnosis enables targeted management, preventing life-threatening salt-wasting crises in affected infants and children.
| Feature | Our Test (CYP11B2 NGS) | Closest Alternative (Biochemical Assay) |
|---|---|---|
| Methodology | NGS – Whole Gene Sequencing (coding & flanking regions) | LC‑MS/MS aldosterone/renin ratio |
| Diagnostic Precision | 99.9% sensitivity for all pathogenic variants | Limited to functional hormone levels; may miss mild/compensated cases |
| Turnaround Time | 3–4 Weeks | 1–2 Weeks |
| Clinical Utility | Definitive molecular diagnosis; family screening & genetic counseling | Suggests hypoaldosteronism but cannot confirm genetic etiology |
Physician Insight & Safety Protocols
“Genetic sequencing of CYP11B2 provides definitive molecular diagnosis for congenital hypoaldosteronism, enabling early intervention and family counseling. However, results must be interpreted alongside clinical and biochemical findings. A negative result does not exclude all possible genetic or epigenetic causes. Always consult your managing physician before making any treatment decisions.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory on Result Interpretation
Genetic test results should always be reviewed in the context of full clinical history, electrolyte profiles, and family pedigree. Confirmatory biochemical testing may be recommended if variants of uncertain significance are identified.
Exclusion Criteria & Red Flags
- Exclusion: Recent blood transfusion (within 3 weeks) or active hematological malignancy—may confound germline DNA analysis.
- Exclusion: Acute febrile illness or uncontrolled infection; reschedule collection after recovery.
- Exclusion: Known allergy to antiseptic or latex; alternatives provided upon request.
- Emergency Red Flag: If the patient (especially an infant) develops vomiting, severe diarrhea, dehydration, lethargy, or collapse, seek immediate emergency medical attention—do not wait for genetic results.
- Pre-Test Requirement: A genetic counseling session and clinical history documentation are mandatory to draw a pedigree chart of affected family members.
Patient FAQ & Clinical Guidance
1. What is the CYP11B2 Gene Sequencing Test?
This NGS-based test detects pathogenic variants in the CYP11B2 gene linked to congenital hypoaldosteronism (CMO II deficiency), enabling precise diagnosis and early intervention.
2. How is the test performed and what sample is required?
A simple blood sample (whole blood in EDTA) or a buccal swab is collected via our VIP Mobile Phlebotomy service. The specimen is processed under strict cold-chain logistics to ensure DNA integrity.
3. When will I receive my results, and how are they interpreted?
Results are available within 3 to 4 weeks and include a comprehensive clinical interpretation by our expert geneticists, along with recommendations for family screening if indicated.
4. Is pre-test genetic counseling mandatory?
Yes, a genetic counseling session is required before sample collection to document family history, discuss implications, and obtain informed consent as per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All genetic data is handled in compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information: Electronic health records and genomic data are secured under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Patient Consent: Informed consent for genetic testing adheres to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Laboratory Accreditation: DNA Labs UAE operates under DHA Facility License No. 1143 and is ISO 9001:2015 certified (INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | CYP11B2 Gene Sequencing for Congenital Hypoaldosteronism (CMO II Deficiency) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Buccal Swab – VIP Mobile Phlebotomy Home Collection Available |
| Methodology Used | Next-Generation Sequencing (NGS) – whole gene coding & flanking regions |
| ICD-10-CM Code | E27.4 |
| LOINC Code | 82939-0 |
| 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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