Test Price
2,800 AED✅ Home Collection Available
PGAM2 Gene Glycogen Storage Disease Type 10 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Overview & Service Guarantees
• Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
• 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 Interpretation Support by a Consultant Medical Geneticist.
• Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PGAM2 Gene Glycogen Storage Disease Type 10 Genetic Test is a definitive molecular diagnostic tool that sequences the entire PGAM2 gene to identify pathogenic variants responsible for muscle phosphoglycerate mutase deficiency (glycogenosis type X). Recommended by General Physicians, Sports Scientists, and Functional Medicine Practitioners, it aids in the accurate diagnosis and management of exercise-induced myopathy and recurrent myoglobinuria. Result turnaround is 3-4 weeks, using a peripheral whole blood or extracted DNA sample collected at your convenience.
Our Test vs. Closest Alternative
| Feature | Our Test: PGAM2 NGS Full Gene Sequencing | Closest Alternative: Single-Gene Sanger Sequencing |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) | Sanger Sequencing (targeted) |
| Variant Detection | Full gene coverage (coding + regulatory regions) | Only previously known hotspot mutations |
| Diagnostic Sensitivity | 99.9% | ~95% (limited to tested loci) |
| Turnaround Time | 3–4 Weeks | 2–4 Weeks |
| Cost | 2800 AED | Varies, often lower but incomplete |
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist, I emphasize that genetic results for PGAM2 must always be correlated with the patient's clinical presentation, family history, and biochemical markers such as creatine kinase and urine myoglobin levels. A negative NGS result does not rule out other metabolic myopathies; further enzymatic testing may be indicated when clinical suspicion remains high. This test should be interpreted as a component of a comprehensive diagnostic evaluation, not as a standalone screening tool."
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Pre-Test Advisory & Patient Preparation
Essential Clinical Guidance
Patients are advised to maintain their current medication regimen unless explicitly directed otherwise by their treating physician. A mandatory pre-test genetic counseling session is required to review family history, discuss potential outcomes, and obtain informed consent. No fasting or special dietary preparation is necessary for the blood draw.
Exclusion Criteria & Emergency Red Flags
Contraindications and Urgent Referral Indicators
- Exclusion: Asymptomatic minors under 18 years without valid legal guardian consent per UAE Federal Law.
- Exclusion: Severe coagulopathy or bleeding disorder that precludes safe venipuncture (contact us for alternate collection arrangements).
- Red Flag: Acute onset of dark urine (cola-colored), severe muscle pain, or sudden weakness – seek immediate emergency care rather than waiting for test results.
- Red Flag: Known myoglobinuria with renal impairment; urgent hospital assessment is required prior to any elective diagnostic testing.
Patient FAQ & Clinical Guidance
1. What is the PGAM2 gene test and why is it ordered?
The PGAM2 NGS test sequences the entire PGAM2 gene to identify mutations causing glycogen storage disease type 10. It is indicated when patients present with exercise-induced muscle pain, cramps, or myoglobinuria, and is essential for confirming the diagnosis and guiding personalized management strategies.
2. How is the sample collected and do I need any special preparation?
A certified phlebotomist collects a peripheral whole blood sample at your home or workplace through our VIP Mobile Phlebotomy service. No fasting or medication adjustment is required. A mandatory pre-genetic counseling session is scheduled to review your family history and explain potential outcomes before sample collection proceeds.
3. When will I receive my results and how accurate are they?
Results are available within 3 to 4 weeks after sample reception, with a diagnostic sensitivity exceeding 99.9% for pathogenic variants. Your report will be interpreted by a Consultant Medical Geneticist and explained during a follow-up tele-consultation to ensure complete understanding of the clinical implications.
UAE Regulatory & Data Privacy Adherence
Compliance Framework & Patient Rights
- All genetic testing services adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability governing clinical safety and patient consent protocols.
- Personal health data is processed in strict 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, ensuring end-to-end encryption and data sovereignty.
- Minors are protected under UAE Federal Law requiring parental or guardian consent and mandatory genetic counseling prior to testing.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). DHA Facility License: 1143.
For billing verification or to schedule a collection, WhatsApp +971 54 548 8731. Home collection available daily from 8 AM to 11 PM.
Clinical & Logistical Metadata
| Test Name | PGAM2 Gene Glycogen Storage Disease Type 10 Genetic Test (NGS Full Gene Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Sequencing |
| ICD-10-CM Code | E74.09, E74.0, Z15.89 |
| LOINC Code | 98416-6 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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