Test Price
2,800 AED✅ Home Collection Available
PFKM Gene Glycogen Storage Disease Type VII (Tarui Disease) Genetic Test | 2800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
Accuracy Guarantee:
99.9% Diagnostic Sensitivity via ISO Accredited Processing by Next-Generation Sequencing with full exonic and flanking region coverage.
Premium Logistics:
VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Hospital-grade sample handling with strict chain of custody.
Clinical Guidance:
Telephonic post-test clinical guidance in result interpretation by a DHA-licensed Consultant Medical Genetics specialist.
Insurance:
Direct billing verification available via WhatsApp at +971 54 548 8731.
Pricing:
2,800 AED inclusive of test processing, clinical interpretation, and courier logistics.
Test Overview & Methodology
The PFKM gene analysis detects pathogenic variants causing Glycogen Storage Disease Type VII (Tarui disease), a rare autosomal recessive metabolic myopathy characterised by exercise intolerance, muscle cramping, rhabdomyolysis, and hyperuricemia. This molecular test utilises full gene sequencing of all coding exons and flanking intronic regions to identify both common and novel disease-causing mutations, providing definitive diagnostic confirmation when clinical symptoms suggest a glycogenolytic defect.
| Feature | Our Test (Premium NGS) | Closest Alternative (Targeted Panel) |
|---|---|---|
| Precision & Coverage | Full gene sequencing all exons plus flanking regions detects novel variants and deep intronic mutations | Limited to known hotspots; may miss rare or private mutations reducing diagnostic yield |
| Methodology | Next-Generation Sequencing (NGS) with advanced bioinformatics pipeline and confirmatory Sanger validation | Sanger sequencing or reduced targeted panel with lower sensitivity for mosaic variants |
| Turnaround Time | 21 to 28 Days with comprehensive clinical reporting | 14 to 21 Days but with less comprehensive data and higher re-test rate |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I understand the profound implications a genetic diagnosis carries for both the patient and their family. This PFKM gene analysis provides definitive molecular clarity for Tarui disease, yet it must always be interpreted within the full context of clinical presentation and metabolic workup. Our laboratory adheres to stringent quality standards, and our team is committed to guiding you through result interpretation and coordinated care planning with your managing metabolic physician.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Notice – Medication and Clinical Management
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 and should never be used as the sole basis for therapeutic decisions.
Exclusion Criteria – Do Not Proceed Without Physician Approval
- Recent blood transfusion within the last 4 weeks may interfere with germline DNA analysis and cause false negative results.
- Current severe metabolic crisis requiring immediate hospitalisation or intensive care support.
- Inability to provide informed consent; minors require legal guardian authorisation in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Emergency Red Flags – Seek Immediate Medical Attention
- Dark cola-coloured urine after mild exercise suggesting rhabdomyolysis with potential acute kidney injury.
- Severe muscle pain, weakness, or inability to move limbs lasting more than a few minutes.
- Chest pain, palpitations, or unexplained shortness of breath during or after exertion.
Patient FAQ & Clinical Guidance
1. Is this test necessary to diagnose Tarui disease?
This NGS test identifies PFKM gene mutations with high accuracy, 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 such as McArdle disease or phosphoglycerate mutase deficiency.
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. This finding requires clinical correlation with your symptoms and metabolic profile. A positive result does not predict disease severity or progression; regular follow-up with a metabolic specialist is essential to manage exercise intolerance, prevent rhabdomyolysis episodes, and monitor renal function.
3. How is the sample collected and when will I receive results?
A peripheral whole blood sample is collected during a hospital-grade home visit by our trained phlebotomy team using VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain logistics. The sample is transported to our ISO-accredited genomics laboratory under strict chain of custody. Results are delivered within 21 to 28 calendar days from sample receipt, accompanied by a detailed clinical report and telephonic guidance from a consultant medical geneticist.
4. Can this test be performed during a metabolic crisis?
No. Testing should be deferred if the patient is experiencing an acute metabolic crisis, severe rhabdomyolysis, or requires hospitalisation. Sample collection during an acute episode may yield unreliable results due to metabolic perturbations and muscle enzyme release. Physician approval and clinical stability are required before proceeding with genetic testing.
UAE Regulatory & Data Privacy Adherence
All genetic testing and clinical data handling at DNA Labs UAE comply with the following UAE federal legal frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, storage, and transfer of personal and genomic data with strict consent and security requirements.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating health information systems, electronic health records, and the secure handling of patient data across digital platforms.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – establishing the legal framework for informed consent, patient safety, and professional accountability in clinical practice and diagnostic testing.
Our laboratory is DHA-licensed (Facility No. 1143) and operates under the governance of the Dubai Health Authority and the UAE Ministry of Health and Prevention. All genetic results are reported with appropriate clinical context and are stored in compliance with applicable data retention and security standards.
Clinical & Logistical Metadata
| Test Name | PFKM Gene Sequencing – Glycogen Storage Disease Type VII (Tarui Disease) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Days |
| Sample Type / Matrix | Peripheral Whole Blood or Extracted DNA / VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Next-Generation Sequencing (NGS) – Full gene sequencing of all exons and flanking intronic regions with confirmatory Sanger validation |
| ICD-10-CM Code | E74.09 |
| LOINC Code | 92822-6 |
| DHA Facility License & Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians