Test Price
2,800 AED✅ Home Collection Available
CYP21A2 Gene Genetic Test for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in UAE | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2012 & ISO 9001:2015 Certified 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 by a DHA-licensed genetic counsellor.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next‑generation sequencing (NGS) test analyses the entire CYP21A2 gene to detect mutations causing 21‑hydroxylase deficiency, the most common form of congenital adrenal hyperplasia (CAH). The analysis uses advanced technology to identify genetic mutations leading to 21‑hydroxylase deficiency, aiding in early diagnosis and disease classification.
| Feature | Our CYP21A2 NGS Test | Closest Alternative (Targeted Mutation Panel) |
|---|---|---|
| Detection Scope | Full gene sequencing including point mutations, indels, and copy number variations | Limited to common mutations (typically 10–15 variants) |
| Methodology | NGS (Next‑Generation Sequencing) with bioinformatic validation | Sanger sequencing or PCR‑based targeted assay |
| Turnaround Time | 3–4 Weeks (expedited options available) | 4–6 Weeks |
| Diagnostic Yield | >98% for classical and non‑classical CAH | ~85% (may miss rare or novel variants) |
Physician Insight & Safety Protocols
From Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): "Every CYP21A2 result must be interpreted alongside clinical symptoms, steroid profiles, and family history. Genetic findings alone do not dictate treatment; a specialist endocrinologist or clinical geneticist must correlate the molecular data with the patient's complete presentation. I recommend pre‑ and post‑test genetic counselling to ensure the result is understood in the context of your health journey."
Important Advisory
Do not discontinue prescribed medication without consulting your doctor. This test is a diagnostic adjunct, not a replacement for ongoing endocrine management. Genetic testing is complementary to clinical evaluation.
Safety Exclusion Criteria
- This genetic test is not suitable for patients currently experiencing an acute adrenal crisis (salt‑wasting episode). Seek immediate medical attention.
- Do not delay emergency care for symptoms such as severe vomiting, dehydration, hypotension, or shock while awaiting results.
- Patients with ambiguous genitalia in newborns require immediate paediatric endocrinology evaluation; genetic testing is complementary.
- Individuals on high‑dose steroids should consult their physician regarding timing of sample collection, as steroid therapy does not alter DNA but may affect clinical interpretation.
Patient FAQ & Clinical Guidance
1. What is CYP21A2 NGS testing for congenital adrenal hyperplasia?
CYP21A2 NGS tests your DNA for mutations causing 21-hydroxylase deficiency, which leads to classic or non‑classic congenital adrenal hyperplasia. This analysis provides precise molecular data to guide diagnosis and management.
2. How should I prepare for this test and is genetic counselling required?
A pre‑test genetic counselling session to draw a family pedigree and discuss clinical history is mandatory before sample collection. A blood, extracted DNA, or a one‑drop blood FTA card sample is then obtained, with no fasting required. The sample is collected via VIP Mobile Phlebotomy for standard peripheral blood specimens.
3. Who should consider this test and what are the potential outcomes?
Individuals with suspected CAH symptoms, family history of adrenal disorders, or positive newborn screening should consider testing. Results may confirm a diagnosis, identify carrier status, or rule out the mutation, guiding lifelong management or family planning.
4. What is the turnaround time for test results?
The standard turnaround time is 3–4 weeks. Expedited processing options are available upon request to accommodate clinical urgency.
UAE Regulatory & Data Privacy Adherence
All data processing and clinical procedures comply 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. Patient safety and clinical liability are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE operates under DHA Facility License Number 1143 at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | CYP21A2 Gene Genetic Test for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (or Extracted DNA, FTA Card for standard specimens) |
| Methodology Used | Next‑Generation Sequencing (NGS) with Bioinformatic Validation |
| ICD-10-CM Code | E25.0, Z14.8 |
| LOINC Code | 21532-9 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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