Test Price
2,800 AED✅ Home Collection Available
COX4I2 Gene Genetic Test – Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia & Calvarial Hyperostosis in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
✅ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing.
🚑 Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM daily).
📞 Clinical Guidance: Telephonic Post‑Test Clinical Guidance session with a qualified genetic counsellor to interpret results.
💳 Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The COX4I2 Gene NGS Test is a comprehensive next‑generation sequencing analysis that detects pathogenic variants in the entire coding region of the COX4I2 gene, responsible for a rare syndromic triad: exocrine pancreatic insufficiency, congenital dyserythropoietic anemia, and calvarial hyperostosis. This molecular test provides definitive genetic diagnosis, enabling tailored clinical management and family screening.
| Feature | Our Test: COX4I2 NGS | Alternative: Single‑Variant PCR |
|---|---|---|
| Methodology | NGS (Next Generation Sequencing) – full gene coverage | PCR for known single‑nucleotide variants only |
| Detection Rate | >99.9% sensitivity for coding and splice‑site variants | Limited to pre‑specified mutations; misses novel variants |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks (if targeted) |
| Price | 2800 AED (inclusive of counselling) | Variable, often 1500–2000 AED (limited coverage) |
| Accreditation | ISO 9001:2015 – DHA‑Licensed Facility (DHA License 1143) | May vary; often without comprehensive counselling |
Physician Insight & Safety Protocols
"A positive COX4I2 result is not a diagnosis in isolation; clinical correlation with haematological, gastrointestinal, and bone imaging findings is essential. Pre‑ and post‑test genetic counselling are mandatory to evaluate variant pathogenicity and guide family planning decisions. — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403"
⚠️ Medication Safety Notice
Do not discontinue any prescribed medication (e.g., pancreatic enzymes, iron chelators, bone‑modifying agents) without explicit consultation with your treating physician. Genetic testing does not replace ongoing clinical management.
🛑 Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients who decline mandatory pre‑test genetic counselling; minors without legal guardian consent (per UAE Federal Law No. 2 of 2019 and Federal Decree-Law No. 4 of 2016); inability to provide a viable DNA sample.
- Emergency Red Flags: Acute severe abdominal pain, signs of acute pancreatitis, acute hemolytic crisis, or sudden worsening of bone pain/swelling require immediate emergency medical evaluation, not delay for genetic testing.
Patient FAQ & Clinical Guidance
1. What symptoms does the COX4I2 gene test help explain?
Snippet: This test identifies mutations causing a syndrome that combines pancreatic insufficiency, anemia, and skull bone thickening.
Clinically, the COX4I2 gene panel clarifies the genetic aetiology of a complex multisystem disorder characterised by fat malabsorption, dyserythropoietic anemia, and progressive calvarial hyperostosis. Early molecular diagnosis enables personalised surveillance and management of endocrine, haematological, and skeletal complications.
2. How long does it take to receive my results, and will a doctor explain them?
Snippet: Results are available in 3 to 4 weeks and include a telephonic consultation with a genetic counsellor.
After your ISO‑accredited sample processing, a confidential report is released within 3–4 weeks. You will receive a scheduled post‑test clinical guidance call to interpret the findings, discuss implications for family members, and plan further medical steps, ensuring you are never left alone with raw data.
3. Is the test compliant with UAE data protection laws?
Snippet: Yes, all procedures adhere to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019.
Sample collection requires full informed consent. Data is stored on accredited servers within the UAE and never shared with third parties without judicial authorisation. We strictly comply with PDPL and health data regulations.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Privacy: All genetic data are processed in full 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. Your sample is handled with strict confidentiality, and results are disclosed only to authorised healthcare providers. The laboratory operates under DHA License 1143 and adheres to ISO 9001:2015 standards for quality management.
Clinical & Logistical Metadata
| Test Name | COX4I2 Gene NGS Genetic Test – Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia & Calvarial Hyperostosis |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA) or buccal swab. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM. |
| Methodology Used | Next Generation Sequencing (NGS) – full coding region and splice sites |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes), D61.09 (Congenital dyserythropoietic anemia), K86.81 (Exocrine pancreatic insufficiency), M85.2 (Hyperostosis of skull) |
| LOINC Code | 21636-6 (DNA sequencing) |
| DHA Facility License & Laboratory Address | License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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