Test Price
4,800 AED✅ Home Collection Available
Glycogen Storage Disorder Gene Panel – 4,800 AED – DHA Licensed Laboratory
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via Next‑Generation Sequencing (NGS) with ISO 9001:2015 certified processing.
Premium Logistics: VIP Mobile Phlebotomy and temperature‑controlled cold‑chain home collection, available daily from 8 AM to 11 PM.
Clinical Guidance: Post‑test telephonic consultation with a DHA‑licensed medical geneticist for result interpretation.
Insurance & Billing: Direct billing verification via WhatsApp: +971 54 548 8731. Support hotline: +971 545 488 731.
Test Overview & Methodology
This comprehensive Glycogen Storage Disorder Gene Panel uses Next‑Generation Sequencing (NGS) on the Illumina NovaSeq platform to detect pathogenic variants in over 30 core genes involved in glycogen metabolism. The panel provides full gene coverage, including deep intronic regions, enabling accurate molecular diagnosis for conditions such as von Gierke disease, Pompe disease, and Cori disease. Results are clinically annotated according to ACMG guidelines and include a genetic counseling note.
| Feature | Our Test (Premium Panel) | Closest Alternative |
|---|---|---|
| Methodology | NGS (Illumina NovaSeq) – full gene coverage, deep intronic regions | Targeted genotyping or limited NGS panel |
| Turnaround Time | 4–6 weeks | 6–10 weeks |
| Sample Collection | Peripheral blood via VIP mobile phlebotomy (cold-chain) | Clinic visit only |
| Clinical Report | Clinically annotated with ACMG classification & genetic counseling note | Raw variant list only |
| Price | 4,800 AED (all‑inclusive home draw) | 4,500–5,500 AED (lab fee only) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403:
“This gene panel is a critical diagnostic aid for suspected glycogen storage disorders. It must be interpreted alongside clinical presentation, liver enzyme profiles, and muscle biopsy findings. A negative result does not exclude all forms of GSD, and any novel variant requires dedicated genetic counselling. Always consult your treating physician before altering any dietary or medication regimen.”
Advisory & Precautions
- Pre‑test medication disclosure: Inform the phlebotomist of all medications, including over‑the‑counter supplements, as some may interfere with DNA extraction.
- Clinical correlation required: Test results are for diagnostic guidance only and should be used in conjunction with clinical evaluation and other laboratory data.
- Genetic counselling: Pre‑ and post‑test genetic counselling is strongly recommended for all individuals and families.
Exclusion Criteria
- Minors: Individuals under 18 years require mandatory parental/legal guardian consent per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Pregnancy: For prenatal diagnosis (amniocentesis or CVS), a valid obstetrical indication and referral are required; perform only under specialist guidance.
- Emergency: This test is not intended for acute metabolic crisis management; clinical stabilization must take priority.
- Invasive sampling: Any invasive procedure (e.g., amniocentesis, CVS) must be performed in an accredited hospital setting. Home collection is not available for these sample types.
Patient FAQ & Clinical Guidance
1. What is the Glycogen Storage Disorder Gene Panel?
This panel uses next‑generation sequencing to identify inherited mutations in genes responsible for glycogen metabolism. It can help diagnose conditions such as von Gierke disease, Pompe disease, and other GSD subtypes. The report includes ACMG‑classified variants and a clinical interpretation note.
2. How is the sample collected?
A trained phlebotomist collects a peripheral blood sample via venipuncture during a home visit (VIP Mobile Phlebotomy). For prenatal cases, an obstetrician may collect amniotic fluid or chorionic villi under ultrasound guidance in a hospital setting. All samples are transported via temperature‑controlled cold chain.
3. How long does it take to receive results?
Results are typically ready within 4 to 6 weeks after the laboratory receives your sample. This turnaround time accounts for sequencing, variant interpretation, and clinical review. A telephonic consultation with our genetics team is arranged to explain the findings.
UAE Regulatory & Data Privacy Adherence
This diagnostic service is fully compliant with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring secure handling of genetic and personal data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing electronic health records and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – governing patient consent and clinical safety.
- All laboratory procedures are ISO 9001:2015 certified (Cert. No. INT/EGQ/2509DA/3139).
- DHA Facility License Number: 1143, issued for Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | Glycogen Storage Disorder Gene Panel |
| Price (AED) | 4,800 AED (all‑inclusive home collection) |
| Turnaround Time | 4–6 weeks |
| Sample Type / Matrix | Peripheral blood (whole blood in EDTA); prenatal: amniotic fluid or CVS (hospital extraction only) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Illumina NovaSeq, full gene coverage |
| ICD-10-CM Code | E74.0 (Glycogen storage disease), E74.09 (Other glycogen storage disease), E74.01 (Von Gierke disease) |
| LOINC Code | 95209-3 (Glycogen storage disease gene panel) |
| 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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