Test Price
2,800 AED✅ Home Collection Available
G6PC Gene (Von Gierke Disease) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 & ISO 9001:2015 Accredited NGS Processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
Clinical Guidance: Post-Test Telephonic Interpretation by DHA-Licensed Consultant Medical Genetics (Lina Osama Zaki Quteineh, DHA: 9294403).
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The G6PC gene NGS test detects pathogenic variants causing Glycogen Storage Disease Type Ia (Von Gierke disease) with comprehensive coverage of all coding exons and splice sites. This DHA-aligned assay replaces outdated targeted panels, offering high diagnostic yield for affected individuals, carriers, and at-risk family members.
| Feature | Our Test (NGS Full Gene) | Closest Alternative (Targeted PCR) |
|---|---|---|
| Precision | 99.9% sensitivity for SNVs, indels, CNVs | Detects only pre-selected hot-spot mutations (≤70% of cases) |
| Method | Illumina® NovaSeq 6000 NGS + Sanger confirmation | PCR-RFLP or ARMS-PCR |
| Speed | 3–4 Weeks with Clinical Interpretation | 1–2 Weeks (incomplete analysis) |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that a positive G6PC variant must always be correlated with clinical symptoms and biochemical findings. A negative result does not exclude the disease if clinical suspicion remains high, and further enzymatic testing may be warranted. Your results require interpretation by a qualified DHA-licensed physician before any management decision.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Precautions
⚠️ Medical Guidance Notice
Do not discontinue prescribed medication without consulting your doctor. Genetic test results are not a substitute for immediate medical care. Always seek emergency care for acute metabolic symptoms.
Exclusion Criteria & Emergency Red Flags
- Individuals unable to provide informed consent (minors require guardian consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Patients currently experiencing hypoglycemic seizures or metabolic decompensation – seek immediate emergency care.
- New-onset severe hepatomegaly with lactic acidosis: proceed to nearest emergency department before scheduling genetic testing.
- Do not use DNA samples collected from individuals who have received allogeneic bone marrow transplants (may yield donor DNA).
Patient FAQ & Clinical Guidance
1. What does the G6PC gene test detect, and how accurate is the NGS method?
Our NGS-based test comprehensively analyses all coding regions of the G6PC gene to detect pathogenic variants causing Von Gierke disease with a 99.9% diagnostic sensitivity, surpassing older methods. The technique sequences the entire gene simultaneously, ensuring no common or rare mutation is missed, and every positive finding is confirmed by Sanger sequencing to eliminate false positives.
2. How long does it take to receive results after sample collection?
The G6PC gene NGS analysis requires three to four weeks from sample receipt in our Dubai-based accredited laboratory. This includes DNA extraction, sequencing, bioinformatic analysis, and clinical interpretation by a consultant medical geneticist. Your final report includes a detailed clinical summary and variant classification.
3. What sample types are accepted, and can collection be done at home?
We accept whole blood collected in EDTA tubes, buccal swabs, or FTA card samples. VIP Mobile Phlebotomy is available daily from 8 AM to 11 PM for home collection with temperature-controlled cold-chain transport. FTA cards stabilize DNA at room temperature and are ideal for home use. All samples must be properly labelled and accompanied by a completed requisition form.
4. Will my insurance cover the cost of this genetic test?
Coverage depends on your insurance provider and policy. We offer direct billing verification via WhatsApp at +971 54 548 8731. Please contact us prior to testing to confirm your eligibility and any pre-authorization requirements.
5. Do I need genetic counselling before or after the test?
Yes, pre-test genetic counselling is mandatory to ensure informed consent, pedigree construction, and understanding of test implications. Post-test counselling is provided to discuss results, recurrence risks, and management options. Our team includes DHA-licensed genetic counsellors and a Consultant Medical Geneticist to support you throughout the process.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance Framework
This test strictly adheres to 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 patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Our facility is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and DHA-licensed (Facility License: 1143). All pre-test requirements include a genetic counselling session to construct a detailed pedigree chart, ensuring accurate interpretation of hereditary patterns.
Clinical & Logistical Metadata
| Test Name | G6PC Gene (Von Gierke Disease) Genetic Test – Next-Generation Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (from sample receipt to final clinical report) |
| Sample Type / Matrix | Whole Blood (EDTA), Buccal Swab, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina® NovaSeq 6000 with Sanger Confirmation |
| ICD-10-CM Code | E74.01 (Glycogen Storage Disease Type Ia, Von Gierke Disease) |
| LOINC Code | 81265-6 (Gene mutations found in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians