Test Price
2,000 AED✅ Home Collection Available
Congenital Adrenal Hyperplasia (CAH) Full Gene Sequence Analysis in UAE | 2000 AED | DHA Licensed Lab
Executive Summary & Core Metrics
- Diagnostic Precision: 99.9% diagnostic sensitivity via full-coding region Sanger sequencing of the CYP21A2 gene, compliant with ISO 9001:2015 (Certificate: INT/EGQ/2509DA/3139).
- VIP Home Collection Logistics: Hospital-grade peripheral blood draw conducted by licensed mobile phlebotomy nurses with temperature-controlled cold-chain transport, available daily from 8 AM to 11 PM across all Emirates.
- Clinical Interpretation Support: Post-test telephonic consultation with a board-certified consultant medical geneticist to contextualize pathogenic variants and guide treatment decisions.
- Insurance & Billing: Direct insurance coverage verification via WhatsApp at +971 54 548 8731 – fully compliant with UAE data protection regulations.
Test Overview & Methodology
This comprehensive full-gene Sanger sequencing analysis identifies pathogenic, likely pathogenic, and copy number variants in the CYP21A2 gene, which encodes 21-hydroxylase enzyme. Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder characterized by impaired cortisol biosynthesis, aldosterone deficiency, and androgen excess. Definitive molecular diagnosis enables genotype-guided glucocorticoid replacement, mineralocorticoid therapy, and informed family planning. The assay spans the entire coding region, all exon-intron boundaries, and the pseudogene CYP21A1P to distinguish true variants from gene conversions.
| Parameter | Our CAH Full Gene Sequence Analysis | Targeted CAH Panel (PCR-based) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity (full coding region) | ~85% (limited to common point mutations) |
| Methodology | Sanger Sequencing – gold standard for single‑gene analysis | Allele‑specific PCR / MLPA |
| Turnaround Time | 4–5 weeks | 2–3 weeks |
| Coverage | Entire CYP21A2 gene with deep intronic boundaries and pseudogene discrimination | 10–20 frequent mutations |
| Price (AED) | 2000 | 950 |
Physician Insight & Safety Protocols
“Congenital Adrenal Hyperplasia requires a nuanced diagnostic approach – a targeted panel can miss up to 15% of clinically relevant mutations. Full-gene Sanger sequencing of CYP21A2 remains the definitive gold standard. However, always interpret molecular results alongside serum 17-hydroxyprogesterone, renin, aldosterone, and electrolyte profiles. A positive finding empowers early intervention, reduces adrenal crisis risk, and optimizes lifelong steroid management. Family cascade screening is strongly recommended when a pathogenic variant is identified.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Precautions for Patients
⚠️ Critical Medication Advisory
Do not discontinue or alter any prescribed corticosteroid (glucocorticoid or mineralocorticoid) therapy without explicit consultation with your endocrinologist.
Abrupt cessation of maintenance steroids in CAH patients can precipitate life-threatening adrenal crisis. Inform your genetic counselor and referring physician about all current medications, including fludrocortisone, hydrocortisone, prednisolone, or dexamethasone, prior to sample collection.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Patients with acute febrile illness, severe coagulopathy (INR > 3.0), or inability to provide informed consent (unless by legal guardian per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Emergency Red Flags: If you or your child experiences vomiting, severe dehydration, hypotension, syncope, or altered consciousness, seek immediate emergency care – these signs may indicate acute adrenal crisis requiring parenteral hydrocortisone and fluid resuscitation.
- Pre‑test Requirement: A valid physician referral is mandatory, except for pre‑surgical clearance, pregnancy‑related screening, or travel abroad per UAE healthcare directives.
Patient FAQ & Clinical Guidance
1. What is the purpose of CAH full gene sequence analysis?
This test identifies CYP21A2 gene mutations to confirm CAH diagnosis, guide steroid therapy, and inform family planning and prenatal counseling.
The assay sequences the complete coding region, adjacent intronic boundaries, and the pseudogene CYP21A1P to detect point mutations, small deletions and insertions, copy number variants, and gene conversions. Clinical indications include neonatal screening follow-up, ambiguous genitalia, salt-wasting crises, precocious puberty in boys, hirsutism with oligomenorrhea in females, and carrier testing in at-risk relatives.
2. How is the sample collected for this analysis?
A simple peripheral blood draw (3–5 mL in EDTA tube) is performed via VIP mobile phlebotomy or temperature-controlled home collection.
Our licensed phlebotomy nurses follow strict aseptic protocols and use validated cold-chain transport containers to maintain sample integrity within 2–8°C. The procedure takes less than 10 minutes and is available daily from 8 AM to 11 PM across Dubai, Abu Dhabi, Sharjah, and all Northern Emirates. Same-day courier delivery to the DNA Labs UAE genetics laboratory ensures rapid processing.
3. What preparations are needed before CYP21A2 sequencing?
A valid doctor's prescription is required (except for approved exemptions); no fasting or medication adjustment is necessary.
No special dietary restrictions are needed. However, inform your physician about current corticosteroid use as it may influence concurrent biochemical marker interpretation. The prescription exemption applies only to pre-surgical clearance, pregnancy-related screening, or international travel per UAE healthcare regulations. Informed consent for genetic testing must be signed prior to sample collection.
4. How long does it take to receive results?
Turnaround time is 4–5 weeks from sample receipt at the laboratory.
The extended timeline reflects the technical complexity of full-gene Sanger sequencing, pseudogene discrimination, and orthogonal confirmation of all detected variants. Results are delivered electronically via secure portal and include a detailed clinical interpretation report authored by the consultant medical geneticist.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with the United Arab Emirates legislative framework governing genetic testing, patient data protection, and healthcare delivery:
- Personal Data Protection: All genetic and personal data are processed in strict accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Patient genomic information is encrypted, access-controlled, and never shared with third parties without explicit written consent.
- Health Information Governance: Our digital health systems comply with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic medical records, audit trails, and international data transfer safeguards.
- Medical Liability & Patient Consent: All clinical procedures, sample collection, and genetic counseling adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, including mandatory informed consent, patient safety protocols, and professional accountability.
For inquiries regarding your data rights, access requests, or privacy complaints, contact our Data Protection Officer via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | Congenital Adrenal Hyperplasia (CAH) Full Gene Sequence Analysis – CYP21A2 |
| Price (AED) | 2,000 AED |
| Turnaround Time | 4–5 weeks (28–35 calendar days) |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA lavender-top tube); alternative: extracted genomic DNA (2 µg minimum) |
| Methodology Used | Full-gene Sanger Sequencing with pseudogene (CYP21A1P) discrimination; orthogonal MLPA for large deletions/duplications |
| ICD-10-CM Code | E25.0, E25.8, E25.9 |
| LOINC Code | 21631-4 |
| DHA Facility License & Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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