Test Price
2,800 AED✅ Home Collection Available
COG4 Gene Sequencing Test for Glycosylation Disorder Type 2J in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Clinical Utility: Definitive molecular diagnosis for Congenital Disorder of Glycosylation (CDG) Type 2J.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 Accredited NGS 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 by Consultant Medical Geneticist (DHA 9294403).
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The COG4 gene NGS test detects pathogenic variants causing Congenital Disorder of Glycosylation Type 2J, a rare autosomal recessive metabolic condition. This test provides definitive molecular diagnosis for affected individuals and enables accurate carrier testing for at-risk family members.
| Parameter | DNA Labs UAE (NGS) | Alternative (Single-Gene Sanger) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) – Full gene coverage | Sanger sequencing of selected exons |
| Detection Rates | >99% analytical sensitivity, all variant types | ~85–90%, misses deep intronic/copy-number changes |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Cost (AED) | 2,800 | 2,400 – 2,600 (limited scope) |
Physician Insight & Safety Protocols
"Identifying a pathogenic variant in COG4 is the cornerstone of precision management for CDG Type 2J. This NGS test provides the comprehensive genomic data necessary to confirm the diagnosis, guide surveillance, and inform recurrence risk counseling for the family."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Important Clinical Advisory
⚠️ Medication & Clinical Management Notice
Do not discontinue prescribed medication or modify therapeutic interventions without consulting your managing physician. This genetic test is a diagnostic tool intended to complement, not override, clinical decision-making.
Exclusion Criteria & Emergency Indicators
Exclusion Criteria
- Lack of clinical suspicion or confirmatory family history for CDG Type 2J.
- Prenatal diagnosis without mandated pre-test genetic counseling (per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Insufficient sample quality or quantity (e.g., degraded DNA, <1 mL whole blood).
ER Red Flags (Seek Immediate Care)
- Unexplained seizures or frequent hypoglycemic episodes.
- Sudden developmental regression or loss of motor skills.
- Severe bleeding tendency or coagulopathy.
Patient FAQ & Clinical Guidance
1. What is the COG4 genetic test used for?
This test identifies disease-causing variants in the COG4 gene to confirm a diagnosis of Congenital Disorder of Glycosylation Type 2J in individuals presenting with suggestive clinical features or a positive family history.
2. How is the test performed and what sample is required?
A certified phlebotomist collects a standard peripheral whole blood sample during a scheduled VIP home visit, ensuring strict temperature-controlled cold-chain integrity from collection to the ISO-accredited laboratory. Buccal swab or FTA card samples may also be accepted following consultation.
3. What do the results mean for my family?
A positive result confirms the genetic etiology, allowing accurate carrier testing for at-risk relatives and informing reproductive planning. A negative result in a symptomatic individual often prompts evaluation of other CDG subtypes or alternative metabolic pathways.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All genetic data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information: Confidentiality and security of electronic health records adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical Safety: Patient consent and clinical safety protocols strictly follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Regulatory Oversight: Conducted under the regulatory purview of the Dubai Health Authority (DHA License No. 1143).
Clinical & Logistical Metadata
| Test Name | COG4 Gene Sequencing (Glycosylation Disorder Type 2J) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or Buccal Swab |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | E77.8 (Other disorders of glycoprotein metabolism) |
| LOINC Code | 81265-2 (Comprehensive gene sequencing) |
| DHA Facility License & Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | License No: 1143 |
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