Test Price
2,800 AED✅ Home Collection Available
PMM2 Gene Glycosylation Disorder Type 1A Genetic Test in UAE | 2800 AED | DHA Licensed & ISO 9001:2015 Certified
Executive Summary & Core Metrics
Core Metrics & Clinical Assurance
✔ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited 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 specialist.
✔ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Clinically trusted by General Physicians, Primary Care Doctors, and Medical & PhD Researchers for definitive metabolic disorder diagnostics.
Test Overview & Methodology
The PMM2 NGS Test detects pathogenic variants in the PMM2 gene causing Congenital Disorder of Glycosylation Type 1A, a multisystem metabolic disorder. This advanced next-generation sequencing analysis provides comprehensive coverage of coding regions and splice sites, essential for confirming a clinical diagnosis, carrier testing, and familial risk assessment.
| Parameter | Our Test (Premium) | Closest Alternative |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity for single-nucleotide variants, indels, and CNVs | Sanger sequencing only; misses large deletions and mosaicism |
| Method | Next-Generation Sequencing (NGS) with ISO‑validated bioinformatics | Sanger sequencing or targeted mutation panel |
| Turnaround | 3–4 Weeks | 6–8 Weeks |
| Pre-Test Support | Mandatory genetic counselling session & pedigree chart | Not routinely provided |
Physician Insight & Safety Protocols
“The PMM2 NGS test is essential for confirming a clinical diagnosis of Congenital Disorder of Glycosylation Type 1A. Genetic counselling and biochemical correlation are mandatory before and after testing. A negative result does not exclude all metabolic disorders; cascade testing of family members may be recommended.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Pre- and Post-Test Requirements
Pre-test genetic counselling is mandatory to document family history and ensure informed consent. Do not rely solely on this test for therapeutic adjustments; clinical correlation with biochemical markers is essential. Any medication changes should be supervised by the treating physician.
Exclusion Criteria & Emergency Red Flags
- Inability to provide clinical history or unwillingness to attend genetic counselling.
- Sample collected without cold‑chain transport or from a non‑sterile site.
- Active bleeding disorders or severe anemia requiring medical stabilization prior to phlebotomy.
- Emergency red flags: sudden metabolic decompensation, loss of consciousness, seizures—seek immediate ER care; this test is not indicated for acute crisis.
Patient FAQ & Clinical Guidance
1. What is the PMM2 Gene Glycosylation Disorder Type 1A Genetic Test?
This test analyzes the entire PMM2 gene using next-generation sequencing to detect mutations causing Congenital Disorder of Glycosylation Type 1A, a condition affecting protein glycosylation and leading to multi‑organ dysfunction. It serves as a definitive molecular diagnostic tool for symptomatic individuals and at‑risk family carriers.
2. How should I prepare for the test and what samples are required?
No fasting is needed; whole blood (3‑5 ml in EDTA tube), extracted DNA, or a dried blood spot on FTA card are accepted. A mandatory genetic counseling session will document your personal and family medical history to interpret results accurately.
3. Why is this priced at 2800 AED and does insurance cover it?
The 2800 AED fee encompasses NGS library preparation, bioinformatic analysis, clinical interpretation, and genetic counselling support, all under ISO 9001:2015 certification. Many UAE insurance plans cover diagnostic genetic testing with valid medical necessity; we verify coverage directly via WhatsApp +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
This test is conducted 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. Clinical safety and consent processes adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our facility operates under DHA License No. 1143.
Clinical & Logistical Metadata
| Test Name | PMM2 Gene Glycosylation Disorder Type 1A Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | E77.8 (Other disorders of glycoprotein metabolism) |
| LOINC Code | 83024-6 (Gene mutations found in PMM2 gene in Blood by Sequencing) |
| DHA Facility License & Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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