Test Price
2,800 AED✅ Home Collection Available
HSD11B2 Gene (Apparent Mineralocorticoid Excess) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين HSD11B2 لمتلازمة فرط القشرانيات المعدنية الظاهرية في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
الملخص التنفيذي: يوفر هذا الفحص الجيني المتطور تحليلاً شاملاً لجين HSD11B2 باستخدام تقنية التسلسل الجيني من الجيل التالي (NGS) للكشف عن الطفرات المسببة لمتلازمة فرط القشرانيات المعدنية الظاهرية. دقة تشخيصية تصل إلى 99.9% عبر مختبر معتمد وفق معايير الآيزو 9001:2015. تشمل الخدمة استشارة وراثية متكاملة وسحب دم منزلي معتمد من هيئة الصحة بدبي مع دعم عبر تطبيق واتساب على الرقم 971545488731+.
- ◆ 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.
Overview
The HSD11B2 Gene Genetic Test is a definitive molecular diagnostic tool that sequences the entire HSD11B2 gene to identify pathogenic variants responsible for Apparent Mineralocorticoid Excess (AME) — a rare autosomal recessive disorder causing severe hypertension and electrolyte imbalance. This advanced Next-Generation Sequencing (NGS) 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.
| 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 Protocol
Clinical Perspective from Dr. PRABHAKAR REDDY (DHA License: 61713011):
"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."
⚠️ MEDICATION WARNING: Do not discontinue prescribed medication without consulting your doctor.
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.
🛑 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 UAE Federal Decree-Law No. 41 of 2024 (Art. 87) and CDS Law 2026 provisions for minors.
- • 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 (CDS Law 2026): For patients under 18 years of age, genetic testing requires documented parental or legal guardian consent in full compliance with UAE CDS Law 2026. A dedicated paediatric genetic counsellor must be present during sample collection.
Pre-Test Information & Drug Avoidance Advisory
A mandatory Genetic Counselling session is required prior to sample collection to draw a comprehensive pedigree chart of family members affected with Apparent Mineralocorticoid Excess. This session ensures accurate risk stratification and informed consent.
Sample Types Accepted: Whole Blood (EDTA tube), Extracted DNA, or One Drop of Blood on FTA Card. For patients on chronic therapy, note that 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.
Facility License: 9834453 | Turnaround Time: 3 to 4 Weeks | Price: 2800 AED
Patient FAQ & Clinical Guidance
Q1: 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.
س2: كم يستغرق وقت ظهور نتائج تحليل جين HSD11B2؟
الجواب: تظهر نتائج تحليل جين HSD11B2 خلال فترة تتراوح بين ثلاثة إلى أربعة أسابيع باستخدام تقنية التسلسل الجيني من الجيل التالي المعتمدة مخبرياً وفق معايير الآيزو. تعتمد مدة ظهور النتائج على اكتمال البيانات السريرية المقدمة وجودة العينة المستلمة، حيث يتم إجراء التحليل في مختبر مرجعي معتمد من هيئة الصحة بدبي. يتلقى المريض تقريراً شاملاً يتضمن تفسير الطفرات المكتشفة وتوصيات المتابعة السريرية بعد مراجعة النتائج من قبل فريق متعدد التخصصات.
Q3: 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- genetic counselling session can be conducted via telemedicine at your convenience prior to the home visit.
UAE Regulatory Compliance & Accreditation
- Federal Decree-Law No. 41 of 2024 (Art. 87): Full compliance with genetic testing consent and data handling mandates.
- CDS Law 2026 (Minors): Dedicated paediatric consent protocols and genetic counsellor presence for all patients under 18.
- UAE PDPL (Data Privacy): All genetic data is stored, processed, and transmitted in strict adherence to the UAE Personal Data Protection Law with end-to-end encryption.
- ISO 9001:2015 Certification: Cert: INT/EGQ/2509DA/3139 — Quality Management Systems certified for diagnostic laboratory operations.
- DHA Facility License: 9834453
Support & Booking: +971 54 548 8731 | WhatsApp
Reviewed by Dr. PRABHAKAR REDDY, DHA License No. 61713011
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