Test Price
2,800 AED✅ Home Collection Available
PFKM Gene Glycogen Storage Disease Type VII (Tarui Disease) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PFKM لمرض تخزين الجليكوجين من النوع السابع (داء تاروي) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
🔬 Accuracy Guarantee:
99.9% Diagnostic Sensitivity via ISO Accredited Processing.
ضمان الدقة: حساسية تشخيصية بنسبة 99.9% عبر معالجة معتمدة من ISO.
🏥 Premium Logistics:
Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
خدمة لوجستية متميزة: جمع عينات منزلي بتصنيف مستشفوي عبر سلسلة تبريد معتمدة ISO وخدمة الفصد المنزلي المتنقلة.
📞 Clinical Guidance:
Telephonic Post-Test Clinical Guidance in result interpretation by a DHA-licensed physician.
استشارة سريرية هاتفية بعد الفحص لتفسير النتائج بواسطة طبيب مرخص من هيئة الصحة بدبي.
💳 Insurance:
Direct Billing Verification via WhatsApp at +971 54 548 8731.
التحقق المباشر من التغطية التأمينية عبر واتساب على الرقم +971 54 548 8731.
Overview
The PFKM gene analysis detects pathogenic variants causing Glycogen Storage Disease Type VII (Tarui disease), a rare metabolic myopathy leading to exercise intolerance, rhabdomyolysis, and hyperuricemia. هذا التحليل الجيني المتطور باستخدام تقنية NGS يوفر تشخيصًا دقيقًا لحالات الاعتلال العضلي الاستقلابي الوراثي.
| Feature | Our Test (Premium NGS) | Closest Alternative (Targeted Panel) |
|---|---|---|
| Precision & Coverage | Full gene sequencing (all exons + flanking regions) – detects novel variants | Limited to known hotspots; may miss rare or private mutations |
| Methodology | Next-Generation Sequencing (NGS) with advanced bioinformatics | Sanger sequencing or reduced panel – lower diagnostic yield |
| Turnaround Time | 3 to 4 Weeks | 2 to 3 Weeks (faster, but with less comprehensive data) |
Physician Insight & Safety Protocol
“As a clinician, I recognize the weight a genetic test carries for you and your family. This PFKM analysis provides powerful molecular clarity, but it is one piece of a bigger diagnostic puzzle — always integrate it with your full clinical history and specialist guidance. Rest assured, our team is committed to supporting you through every step of interpretation and care.”
— Dr. PRABHAKAR REDDY, DHA License No. 61713011
⚠️ Medication & Safety Notice
Do not discontinue any prescribed medication or alter your treatment plan without consulting your managing physician. A genetic result alone does not replace clinical management.
Exclusion Criteria (Do Not Proceed Without Physician Approval):
- Recent blood transfusion (within 4 weeks) may interfere with germline DNA analysis.
- Current severe metabolic crisis requiring immediate hospitalisation.
- Inability to provide informed consent (e.g., minors without legal guardian authorisation, as per UAE CDS Law 2026).
🚨 Emergency Red Flags — Seek Immediate Medical Attention If You Experience:
- Dark, cola-coloured urine after mild exercise, suggesting rhabdomyolysis.
- Severe muscle pain, weakness, or inability to move limbs.
- Chest pain, palpitations, or shortness of breath.
Patient FAQ & Clinical Guidance
1. Is this test necessary to diagnose Tarui disease?
This NGS test identifies PFKM gene mutations accurately, confirming the diagnosis when clinical symptoms suggest glycogen storage disease type VII. It serves as the definitive molecular confirmation in patients with exercise-induced muscle cramping, rhabdomyolysis, and elevated creatine kinase, distinguishing Tarui disease from other metabolic myopathies. يحدد هذا الاختبار طفرات جين PFKM بدقة لتأكيد التشخيص عند وجود أعراض سريرية توحي بداء تاروي.
2. What does a positive result mean for my health?
A positive result indicates you carry a disease-causing variant in the PFKM gene, establishing the molecular diagnosis of Tarui disease but requiring clinical correlation. It does not predict disease severity; regular follow-up with a metabolic specialist is essential to manage exercise intolerance and prevent rhabdomyolysis. النتيجة الإيجابية تعني وجود طفرة ممرضة في الجين، مما يؤكد التشخيص الجزيئي، ولكنها لا تتنبأ بشدة المرض ويجب متابعة الأعراض سريريًا.
3. How is the sample collected and how long will I wait for results?
A blood sample or DNA is collected during a hospital-grade home visit, and results are available in 3–4 weeks. Our VIP phlebotomy service ensures a painless, convenient collection at your preferred location, with strict cold-chain transport to the sequencing lab. تتم عملية سحب العينة (دم كامل أو حمض نووي مستخلص) عبر زيارة منزلية بنظام المستشفى، وتظهر النتائج خلال 3 إلى 4 أسابيع بفضل سلسلة التبريد المعتمدة.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
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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