Test Price
2,800 AED✅ Home Collection Available
HSD11B2 Gene (Apparent Mineralocorticoid Excess) Genetic Test in UAE – 2800 AED
Executive Summary & Core Metrics
Executive Summary
The HSD11B2 Gene Genetic Test is a definitive molecular diagnostic tool that sequences the entire HSD11B2 gene using Next-Generation Sequencing (NGS) technology to identify pathogenic variants responsible for Apparent Mineralocorticoid Excess (AME) — a rare autosomal recessive disorder causing severe hypertension and electrolyte imbalance. This advanced assay delivers comprehensive variant detection including single nucleotide variants, insertions, deletions, and copy number variations, ensuring the highest diagnostic yield for clinicians managing complex metabolic and hypertensive disorders. The service includes mandatory pre-test genetic counselling, a detailed clinical report with ACMG-classified variants, and post-test telephonic guidance from a Consultant Medical Genetics specialist.
- ◆Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- ◆Premium Logistics: Hospital-Grade Home Collection via ISO-Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy Service — available 8 AM to 11 PM across all UAE emirates.
- ◆Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation with qualified genetic counselling support.
- ◆Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The HSD11B2 gene encodes 11-beta-hydroxysteroid dehydrogenase type 2, the enzyme responsible for converting active cortisol to inactive cortisone, thereby protecting the mineralocorticoid receptor from cortisol overactivation. Pathogenic variants in HSD11B2 cause Apparent Mineralocorticoid Excess, a monogenic form of hypertension characterized by early-onset severe hypertension, hypokalemia, suppressed plasma renin activity, and low aldosterone levels. This NGS-based test provides complete coverage of the HSD11B2 coding region, splice sites, and flanking intronic sequences, enabling detection of both known and novel variants with high confidence. A mandatory pre-test genetic counselling session ensures comprehensive pedigree analysis and informed consent prior to sample collection.
| Feature | Our Test – HSD11B2 NGS (UAE) | Closest Alternative – Targeted Sanger Sequencing |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity; full gene coverage including intron-exon boundaries | ~95% Sensitivity; limited to pre-specified exonic regions only |
| Methodology | NGS (Next-Generation Sequencing) with bioinformatic variant interpretation per ACMG 2026 Guidelines | Capillary Electrophoresis Sanger Sequencing; single-amplicon resolution |
| Turnaround Time | 3 to 4 Weeks with expedited clinical report | 4 to 6 Weeks; limited throughput capacity |
Physician Insight & Safety Protocols
Clinical Perspective from Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA Registration ID: 9294403):
"Apparent Mineralocorticoid Excess is a profoundly impactful yet underdiagnosed genetic condition — I have witnessed families gain clarity and life-saving therapeutic direction through timely HSD11B2 gene testing. Every result must be interpreted within the full clinical context including blood pressure trends, serum potassium levels, and renin-aldosterone profiling, as genotype-phenotype correlation is essential for accurate management. My commitment to every patient undergoing this test is to ensure they receive not just a laboratory report, but a compassionate, clinically actionable roadmap developed in partnership with their treating physician and supported by our multidisciplinary genetics team at DNA Labs UAE."
Medication Advisory & Pre-Test Preparation
Medication Advisory
Patients on potassium-sparing diuretics (e.g., spironolactone, eplerenone), antihypertensive agents, or glucocorticoid therapy must continue their prescribed regimen unless explicitly advised otherwise by their treating physician. Abrupt discontinuation may precipitate dangerous hypertensive crises or life-threatening electrolyte disturbances. Certain medications including licorice-derived glycyrrhizin, carbenoxolone, and potent CYP3A4 inducers may interfere with phenotypic correlation — disclose all supplements and medications during the pre-test counselling session.
Safety Exclusion Criteria & Emergency Red Flags
- •Exclusion Criteria: Patients currently experiencing acute hypertensive crisis (systolic BP >180 mmHg or diastolic BP >120 mmHg with end-organ damage), hemodynamic instability, or severe symptomatic hyperkalemia (serum K⁺ >6.5 mmol/L) requiring emergency intervention must be stabilized prior to elective phlebotomy for genetic testing.
- •Exclusion Criteria: Individuals unable to provide informed consent or for whom a pre-test genetic counselling session cannot be completed as mandated by Federal Decree-Law No. 4 of 2016 on Medical Liability and prevailing UAE healthcare regulations.
- •ER Red Flags: If the patient develops severe headache with visual disturbance, chest pain, acute confusion, seizures, or palpitations with syncope at any point before or after sample collection, immediate emergency medical attention must be sought — do not delay for test results.
- •Paediatric Safeguard: For patients under 18 years of age, genetic testing requires documented parental or legal guardian consent in full compliance with UAE medical liability laws. A dedicated paediatric genetic counsellor must be present during sample collection and pre-test counselling.
Patient FAQ & Clinical Guidance
1. What is the HSD11B2 gene test and why is it performed?
A: The HSD11B2 genetic test detects pathogenic mutations causing Apparent Mineralocorticoid Excess, a rare inherited hypertensive disorder requiring precise molecular diagnosis for targeted clinical management. This test sequences the entire HSD11B2 gene using Next-Generation Sequencing (NGS) technology to identify variants that impair the 11-beta-hydroxysteroid dehydrogenase type 2 enzyme, leading to cortisol-mediated mineralocorticoid receptor overactivation. It is indicated for patients presenting with early-onset hypertension, hypokalemia, low renin and aldosterone levels, and a family history suggestive of monogenic hypertension syndromes. Confirming a molecular diagnosis enables personalized treatment with mineralocorticoid receptor antagonists and prevents unnecessary invasive investigations.
2. How long does it take to receive results for the HSD11B2 gene test?
A: Results are typically available within 3 to 4 weeks from sample receipt at our Dubai Healthcare City reference laboratory. The turnaround time depends on the completeness of clinical data provided, sample quality, and the complexity of variant interpretation. Each result undergoes rigorous bioinformatic analysis followed by manual review by our Consultant Medical Genetics specialist. Patients receive a comprehensive clinical report detailing all identified variants classified according to ACMG guidelines, along with interpretive commentary and actionable follow-up recommendations.
3. Is home blood collection available for this genetic test in the UAE?
A: Yes, ISO-certified hospital-grade home blood collection is available across all seven UAE emirates from 8 AM to 11 PM daily, including weekends. Our VIP Mobile Phlebotomy service utilizes cold-chain transport validated for DNA stability, ensuring sample integrity from collection to laboratory processing. To schedule a home collection, contact our support team via WhatsApp at +971 54 548 8731 for immediate booking and insurance verification. All phlebotomists are DHA-licensed and trained in genetic sample handling protocols, and the pre-test genetic counselling session can be conducted via telemedicine at your convenience prior to the home visit.
4. What sample types are accepted for the HSD11B2 gene test?
A: The laboratory accepts whole blood collected in EDTA tubes (preferred), extracted DNA of sufficient quality and quantity, or a single dried blood spot on an FTA card. For home collection, our phlebotomists are equipped with appropriate collection kits and transport media to ensure DNA stability. Patients on chronic therapy should disclose all medications and supplements during the pre-test counselling session, as certain agents such as licorice-derived glycyrrhizin or carbenoxolone may influence phenotypic correlation and variant interpretation.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data is stored, processed, and transmitted in strict adherence to the UAE Personal Data Protection Law with end-to-end encryption and access control protocols.
- Federal Law No. 2 of 2019: Full compliance with health data protection mandates for the use of information and communication technology in health fields, ensuring secure electronic health data exchange.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: All pre-test counselling, informed consent procedures, and sample collection protocols adhere strictly to medical liability standards for genetic testing.
- ISO 9001:2015 Certification: Cert: INT/EGQ/2509DA/3139 — Quality Management Systems certified for diagnostic laboratory operations.
- DHA Facility License: 1143 | Laboratory Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | HSD11B2 Gene (Apparent Mineralocorticoid Excess) Genetic Test – NGS Full Gene Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with Bioinformatic Variant Interpretation per ACMG Guidelines |
| ICD-10-CM Code | E24.3 (Apparent mineralocorticoid excess syndrome) |
| LOINC Code | 81247-9 (HSD11B2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
Support & Booking: +971 54 548 8731 | WhatsApp
Reviewed by Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Corporate Lab Branding: DNA Labs UAE
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