Test Price
2,800 AED✅ Home Collection Available
NR0B1 Gene Adrenal Hypoplasia Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity, backed by ISO 9001:2015 certified NGS processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP mobile phlebotomy & temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary telephonic post‑test result interpretation with a DHA‑licensed consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731. Pre‑approvals handled for major UAE networks.
Quick Reference: Comprehensive NGS assay for the NR0B1 (DAX1) gene. Confirms X‑linked adrenal hypoplasia congenita, identifies carriers, and guides lifelong endocrine management. Includes genetic counselling and pedigree analysis.
Test Overview & Methodology
The NR0B1 Gene Adrenal Hypoplasia Genetic Test is a comprehensive next‑generation sequencing assay that screens for pathogenic variants in the entire NR0B1 (DAX1) gene, the principal cause of X‑linked adrenal hypoplasia congenita (AHC). This test is essential for confirming primary adrenal insufficiency in neonates, children, and adults, and for identifying carrier status in at‑risk family members. Full‑gene sequencing together with copy number variant (CNV) analysis ensures the highest diagnostic yield.
| Feature | Our Test (DHA‑Licensed) | Closest Alternative |
|---|---|---|
| Method | Full‑gene NGS + CNV analysis (99.9% sensitivity) | Single‑variant genotyping or limited panel |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks (overseas reference lab) |
| Interpretation | ACMG/AMP guidelines, in‑house PhD geneticist review | Automated annotation only |
| Home Collection | Yes – ISO‑certified cold‑chain (8 AM to 11 PM) | Often clinic‑only |
| Price | 2,800 AED (all inclusive) | 3,500 to 4,200 AED + consult |
Physician Insight & Safety Protocols
“Every NR0B1 test result must be interpreted in light of the patient’s full clinical picture, including age of onset, cortisol/ACTH levels, and family pedigree. A negative result does not rule out adrenal hypoplasia caused by other genes, nor does a positive variant guarantee full penetrance. Always correlate molecular findings with an endocrinology work‑up.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Ordering Guidance
Ideal candidates include neonates with salt‑wasting crisis, older children with delayed puberty and hypocortisolism, males with idiopathic primary adrenal insufficiency, and female carriers seeking genetic counselling. A genetic counselling consultation with a detailed pedigree drawing is mandatory before sample collection.
Medication Safety Advisory
⚠️ Do not discontinue or adjust any prescribed corticosteroid or mineralocorticoid therapy without consulting your treating endocrinologist. Stopping medication suddenly can trigger a life‑threatening adrenal crisis.
Exclusion Criteria & Specimen Handling
- Exclusion Criteria: Individuals with severe uncorrected coagulopathy (INR > 2.0) or active haemorrhagic shock; inability to provide 2 to 3 mL whole blood per protocol. Neonates < 32 weeks corrected age require NICU‑supervised collection.
- Specimen Stability: Whole blood must be collected in EDTA (lavender‑top tube), immediately refrigerated at 2–8 °C, and transported via our ISO cold‑chain courier within 24 hours. Alternatively, a single drop on FTA card or previously extracted DNA (quality check required) is accepted.
- Emergency Red Flags: If the patient develops severe vomiting, diarrhoea, lethargy, confusion, or hypotension before results are available, proceed to the nearest emergency department and inform the physician of possible adrenal crisis.
Patient FAQ & Clinical Guidance
1. What is the accuracy of this NR0B1 genetic test for adrenal hypoplasia?
Our NGS‑based test achieves 99.9% analytical sensitivity for single nucleotide variants and copy number changes across the entire NR0B1 gene, making it the most conclusive DNA‑based diagnosis for X‑linked AHC when combined with clinical findings.
2. What does a negative result mean, and do I still need further testing?
A negative result rules out pathogenic variants in NR0B1 but does not exclude adrenal hypoplasia due to other genes. Your endocrinologist may recommend a broader adrenal insufficiency gene panel if clinical suspicion remains high.
3. How is the home collection visit arranged?
A certified phlebotomist visits your home between 8 AM and 11 PM with an ISO‑certified cold‑chain kit. Blood is drawn according to the highest safety standards and transported directly to our central laboratory for processing.
4. Do I need to prepare or change my medications before the test?
No fasting or medication changes are required for DNA extraction. However, we mandate a genetic counselling session prior to collection to draw a detailed pedigree. Please inform the scheduling team of any current corticosteroid dosage.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE law. All genetic and clinical information is processed in strict 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 and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is a DHA‑licensed facility (License No. 1143) operating under the jurisdiction of the Dubai Health Authority.
ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) — your quality assurance benchmark.
Clinical & Logistical Metadata
| Test Name | NR0B1 Gene Adrenal Hypoplasia Genetic Test (Full‑gene NGS + CNV) |
| Price (AED) | 2,800 AED (all inclusive) |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole blood (EDTA tube), FTA card dried blood spot, or previously extracted DNA (quality check required) |
| Methodology Used | Next‑generation sequencing (NGS) with CNV analysis; ACMG/AMP variant interpretation |
| ICD-10-CM Code | Q89.1 (Congenital adrenal hypoplasia) |
| LOINC Code | 21626-2 (Genetic analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | DNA Labs UAE — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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