Test Price
2,800 AED✅ Home Collection Available
ENO3 Gene Glycogen Storage Disease Type 13 (GSD XIII) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين ENO3 لمرض اختزان الغليكوجين النوع 13 في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
✓ Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy.
✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation with a DHA-licensed specialist.
✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ملخص تنفيذي:
دقة تشخيصية عالية بنسبة 99.9% مع خدمات سحب منزلي متطورة وامتثال كامل للقوانين الصحية الإماراتية وتوجيه سريري بعد الفحص.
Overview: ENO3 Gene & Glycogen Storage Disease Type 13
This cutting-edge Next-Generation Sequencing (NGS) test analyzes the entire ENO3 gene to diagnose glycogen storage disease type 13 (GSD XIII), a rare metabolic myopathy. هذا الفحص الجيني المتقدم يحلل جين ENO3 بالكامل لتشخيص مرض اختزان الغليكوجين النوع 13 بدقة عالية.
Why Our Test Leads
| Feature | Our Test – ENO3 NGS | Closest Alternative |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity; full gene sequencing with copy number variant (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 |
Consultant Physician Insight & Safety Protocol
A Note from Dr. PRABHAKAR REDDY (DHA License: 61713011)
“Every genetic result must be correlated with the patient’s clinical symptoms and family history. A positive ENO3 variant does not always confirm disease expression, and a negative result cannot exclude all forms of glycogen storage disease. I always discuss the broader metabolic picture with my patients before making any clinical decisions.”
⚠ Medication Warning
Do not discontinue prescribed medication or modify your diet without consulting your doctor. Abrupt cessation of enzyme‑replacement therapies or metabolic supplements can trigger acute events.
Exclusion Criteria & Emergency Red Flags
- Exclusions: Patients who have received a hematopoietic stem cell transplant within 90 days (may affect DNA extraction from blood). Unconscious individuals without legal guardian consent (CDS Law 2026, Minors).
- Red Flags – Seek immediate emergency care if: Sudden muscle weakness, dark urine (myoglobinuria), difficulty breathing or swallowing, severe muscle cramps with exercise intolerance.
- Consent: Written informed consent and, for minors, a parent/guardian co‑signature are mandatory per UAE Federal Decree‑Law No. 41 of 2024, Art. 87 and UAE Genetic Data Privacy Law (PDPL).
ملاحظة: يجب الامتثال لموافقة ولي الأمر للقاصرين بموجب القانون الاتحادي رقم 41 لسنة 2024 بشأن خصوصية البيانات الجينية.
Patient FAQ & Clinical Guidance
Q1: What is the ENO3 GSD XIII genetic test?
Snippet: ENO3 NGS test detects all pathogenic ENO3 gene mutations for GSD XIII diagnosis.
This examines the entire coding region of the ENO3 gene using Next-Generation Sequencing to identify any variant that may cause glycogen storage disease type 13, a condition that primarily weakens muscle function. It is recommended for individuals with unexplained exercise intolerance or muscle cramps and can guide therapy and family planning.
العربية: يكتشف تحليل جين ENO3 بتقنية التسلسل الجيني الشامل جميع الطفرات المسببة لمرض اختزان الغليكوجين النوع 13. يوصى به لكل من يعاني من ضعف عضلي غير مفسر أو تقلصات مع الرياضة.
Q2: How is the sample collected?
Snippet: A simple blood draw or FTA card spot is collected at home by certified phlebotomist.
We offer VIP mobile phlebotomy across all UAE emirates from 8 AM to 11 PM. A trained phlebotomist arrives at your door, collects a small blood sample (or a drop‑of‑blood FTA card if preferred), and transports it in an ISO‑certified cold‑chain box immediately to our laboratory. No fasting or special preparation is needed.
العربية: تؤخذ عينة دم بسيطة أو بطاقة FTA في المنزل بواسطة ممرض معتمد وتنقل بتبريد محكم لضمان سلامة العينة.
Q3: What is the turnaround time?
Snippet: Results are delivered in 3 to 4 weeks, with a comprehensive interpretation by genetic specialists.
Once the sample reaches the lab, NGS library preparation, sequencing, bioinformatics analysis, and a full clinical report are completed within 3 to 4 weeks. You receive a secure digital report and a scheduled tele‑consultation with a genetic counsellor to explain the findings in plain language.
العربية: تصدر النتائج خلال 3 إلى 4 أسابيع مع تقرير سريري مفصل واستشارة هاتفية مع أخصائي الوراثة لتوضيح النتائج.
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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