Test Price
2,800 AED✅ Home Collection Available
ENO3 Gene Glycogen Storage Disease Type 13 (GSD XIII) Genetic Test – NGS Sequencing – Dubai
Executive Summary & Core Metrics
✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM).
✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance with a DHA-licensed genetic specialist.
✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test analyzes the entire ENO3 gene to diagnose glycogen storage disease type 13 (GSD XIII), a rare metabolic myopathy characterized by exercise intolerance, muscle cramps, and risk of rhabdomyolysis. The assay includes full coding region sequencing, intronic flanking regions, and copy number variant (CNV) analysis, with Sanger confirmation of all pathogenic variants.
Why Our Test Leads
| Feature | Our Test – ENO3 NGS | Closest Alternative |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity; full gene sequencing with CNV analysis | ~85% for single-exon tests; may miss deep intronic mutations |
| Methodology | NGS (Illumina NovaSeq) with Sanger confirmation of pathogenic variants | Sanger sequencing only, limited to a few exons |
| Speed (TAT) | 3–4 Weeks, comprehensive clinical report | 6–8 Weeks, often fragmented |
Physician Insight & Safety Protocols
Consultant Medical Genetics – Lina Osama Zaki Quteineh (DHA License: 9294403)
“A genetic diagnosis of GSD XIII requires careful correlation with clinical history and metabolic markers. While a pathogenic ENO3 variant strongly supports the diagnosis, I always consider that the presentation can overlap with other myopathies. Comprehensive counselling and periodic follow-up are essential, even after a definitive result is obtained.”
Medical Advisory: Do Not Discontinue Medication Without Consultation
Abrupt cessation of prescribed enzyme-replacement therapies, metabolic supplements, or anti-epileptic medications can trigger acute metabolic decompensation or seizure. Always consult your treating physician before modifying any treatment regimen.
Exclusion Criteria & Emergency Red Flags
- Exclusions: Patients who have received a hematopoietic stem cell transplant within 90 days (may interfere with DNA extraction from peripheral blood). Unconscious individuals without written consent from a legal guardian – consent must comply with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Red Flags – Seek immediate emergency care if: Sudden severe muscle weakness, dark urine (myoglobinuria), difficulty breathing or swallowing, or severe muscle cramps with exercise intolerance.
- Consent: Written informed consent is mandatory. For minors, a parent or legal guardian co-signature is required per UAE Federal Decree-Law No. 4 of 2016.
Patient FAQ & Clinical Guidance
1. What is the ENO3 GSD XIII genetic test?
This test uses Next-Generation Sequencing to examine the entire ENO3 gene for mutations that cause glycogen storage disease type 13. It is recommended for individuals with unexplained exercise intolerance, recurrent muscle cramps, or elevated creatine kinase levels. A positive result can confirm the diagnosis and guide metabolic management and family counselling.
2. How is the sample collected?
A simple peripheral blood draw (or a dried blood spot on an FTA card) is collected by a certified phlebotomist during our VIP Mobile Phlebotomy visit. The sample is transported in an ISO-certified temperature-controlled cold chain directly to our laboratory. No special preparation such as fasting is required.
3. What is the turnaround time and what will I receive?
Results are delivered within 3 to 4 weeks from sample receipt. You will receive a secure digital report that includes all identified variants, clinical interpretation, and a scheduled tele-consultation with a DHA-licensed genetic counsellor to explain the findings and implications.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with the 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. All patient genetic data is encrypted, anonymized for research (where applicable), and stored on secure servers within the UAE. No genetic information is shared without explicit written consent.
Clinical & Logistical Metadata
| Test Name | ENO3 Gene Glycogen Storage Disease Type 13 (GSD XIII) Genetic Test – NGS Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or FTA Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq) with Sanger Confirmation of Pathogenic Variants |
| ICD-10-CM Code | E74.09 (Other glycogen storage disease) |
| LOINC Code | 77784-8 (ENO3 gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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