Test Price
2,800 AED✅ Home Collection Available
G6PC Gene Sequencing for Glycogen Storage Disease Type Ia (GSD-Ia) in UAE | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Correlation by DHA-Licensed Physicians.
- Insurance Support: Direct Billing Verification & Prior Authorization Assistance via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the entire coding region of the G6PC gene to diagnose Glycogen Storage Disease Type Ia (von Gierke disease), an autosomal recessive metabolic disorder. It precisely identifies pathogenic variants, guiding life-long dietary management and family risk assessment. Molecular confirmation enables tailored clinical surveillance and early intervention for affected individuals.
| Feature | Our G6PC NGS Test | Closest Alternative (Enzyme Assay) |
|---|---|---|
| Precision | >99.9% sensitivity & specificity; full gene coverage | ~85–90% sensitivity; cannot detect all variants |
| Methodology | Next-Generation Sequencing (NGS) on whole blood, extracted DNA, or FTA card | Glucose-6-phosphatase enzyme activity in liver tissue (invasive biopsy) |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks |
| Price | 2,800 AED | ~5,000+ AED (hospital-based) |
| DHA/MOHAP Compliance | Fully Compliant | Partial |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics practicing in the UAE, I confirm that this NGS-based G6PC gene sequencing test provides definitive molecular diagnosis for Glycogen Storage Disease Type Ia. Results must be interpreted alongside clinical presentation including fasting hypoglycemia, hepatomegaly, and lactic acid profiles. Genetic counseling before and after testing is essential to discuss carrier status, recurrence risk, and long-term management strategies for affected individuals and their families.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication & Treatment Continuity
Do not discontinue prescribed therapies including cornstarch, glucose infusion, or any metabolic management regimen without consulting your treating physician. This genetic test is a diagnostic tool and does not replace acute clinical management. Any treatment modification must be guided by your healthcare provider based on the complete clinical picture.
Exclusion Criteria & Emergency Red Flags
- Exclusion: This test is not suitable for patients in acute metabolic crisis; clinical stabilization must occur before specimen collection.
- Exclusion: Prenatal diagnosis requires formal genetic counseling and written informed consent in compliance with UAE medical liability regulations.
- Red Flag: Severe hypoglycemia manifesting as confusion, loss of consciousness, or seizure requires immediate emergency medical attention.
- Red Flag: New onset hepatomegaly accompanied by lactic acidosis warrants urgent inpatient evaluation and metabolic workup.
Patient FAQ & Clinical Guidance
1. What is the purpose of the G6PC gene sequencing test?
This test detects pathogenic mutations in the G6PC gene to confirm or exclude Glycogen Storage Disease Type Ia (von Gierke disease), enabling precise diagnosis, family cascade screening, and informed management planning.
2. How is the sample collected for this genetic analysis?
A standard peripheral whole blood sample, extracted DNA, or a dried blood spot on an FTA card is collected via our VIP Mobile Phlebotomy service with temperature-controlled cold-chain logistics, available daily from 8 AM to 11 PM.
3. Is prior genetic counseling required before testing?
Yes, a mandatory genetic counseling session with pedigree chart documentation is required prior to sample collection, as per UAE regulatory standards for predictive and diagnostic genetic testing.
4. Does insurance cover this diagnostic test in the UAE?
Many UAE insurers cover genetic testing with prior authorization. We provide direct billing verification and support via WhatsApp at +971 54 548 8731 to confirm your coverage before testing.
UAE Regulatory & Data Privacy Adherence
- All patient data processed in compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL); results are confidential and shared only with the ordering physician and authorized healthcare providers.
- Health information systems and electronic medical record integrations adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical testing safety, patient consent, and medical liability follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ISO 9001:2015 Certified Laboratory – Cert: INT/EGQ/2509DA/3139.
- DHA Facility License No. 1143 fully enforced for all diagnostic procedures.
Clinical & Logistical Metadata
| Test Name | G6PC Gene Sequencing for Glycogen Storage Disease Type Ia (GSD-Ia) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full G6PC Coding Region Analysis |
| ICD-10-CM Code | E74.01 |
| LOINC Code | 21656-4 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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