Test Price
2,800 AED✅ Home Collection Available
RBCK1 Gene Polyglucosan Body Myopathy Type 1 (PGBM1) – Genetic Test in UAE | 2,800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
This definitive Next-Generation Sequencing (NGS) test analyzes the entire coding region of the RBCK1 gene to detect pathogenic variants causing Polyglucosan Body Myopathy Type 1 (PGBM1), with or without primary immunodeficiency. Our ISO 9001:2015-certified, DHA-licensed laboratory (License No. 1143) delivers 99.9% diagnostic sensitivity, expert genetic counselling, and results within 3–4 weeks, fully compliant with UAE federal healthcare data protection regulations.
- Diagnostic Accuracy: 99.9% sensitivity via full gene NGS sequencing.
- Premium Logistics: VIP mobile phlebotomy with temperature-controlled cold-chain home collection, available daily 8 AM to 11 PM.
- Clinical Guidance: Complimentary telephonic post-test result interpretation and mandatory genetic counselling.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Core Metrics: Turnaround 3–4 weeks | Specimen: Whole blood, extracted DNA, or FTA card | Methodology: NGS full gene sequencing | DHA License: 1143 | Location: Dubai Healthcare City
Test Overview & Methodology
The RBCK1 genetic analysis is a high-precision NGS assay that identifies pathogenic mutations in the RBCK1 gene responsible for polyglucosan body myopathy type 1, a rare neuromuscular disorder frequently associated with primary immunodeficiency. Our DHA-licensed facility processes minimally invasive DNA samples and guarantees results within 3–4 weeks, complemented by mandatory genetic counselling for accurate clinical correlation and informed medical decision-making.
| Feature | Our RBCK1 NGS Test | Standard Alternative |
|---|---|---|
| Precision | Full gene sequencing (99.9% sensitivity) | Single variant or hotspot analysis only |
| Method | NGS (Next-Generation Sequencing) | Sanger sequencing or targeted PCR |
| Speed | 3–4 weeks | 6–8 weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I underscore that this RBCK1 gene sequencing test provides definitive diagnostic confirmation for Polyglucosan Body Myopathy Type 1. However, results must be interpreted within the complete clinical context, including a detailed family pedigree and neurological assessment. Pre- and post-test genetic counselling is essential to guide informed consent, risk evaluation, and long-term management planning.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do Not Discontinue Prescribed Therapy Without Medical Consultation
Patients undergoing evaluation for RBCK1-related myopathy may be on immunosuppressive or cardiac medications. Abrupt discontinuation can lead to serious complications. Always consult your treating physician before making any changes to prescribed drug regimens.
Exclusion Criteria & Emergency Red Flags
Contraindications and Urgent Warning Signs
Exclusion Criteria: Home phlebotomy is contraindicated for haemodynamically unstable or critically ill patients. All samples must be collected under strict aseptic conditions. This test requires a valid physician referral and is not intended for non-medical genetic curiosity.
Emergency Red Flags: Seek immediate emergency care if you develop sudden muscle weakness, breathing difficulty, high fever, or confusion. Inform the emergency medical team of your underlying genetic condition and any pending or completed RBCK1 test results.
Patient FAQ & Clinical Guidance
1. What is the RBCK1 Gene Polyglucosan Body Myopathy Type 1 (PGBM1) Genetic Test?
This test is a DNA analysis that detects pathogenic mutations in the RBCK1 gene, which causes Polyglucosan Body Myopathy Type 1, a rare genetic disorder characterized by progressive muscle weakness and frequently associated with primary immunodeficiency. The test is ordered when clinical symptoms, family history, or preliminary investigations suggest RBCK1-related myopathy. It confirms the diagnosis, guides treatment decisions, and enables genetic counselling for at-risk family members.
2. How is the sample collected for this genetic analysis?
A small peripheral whole blood sample is drawn by a certified phlebotomist at your home via our VIP mobile phlebotomy service, or you may visit our DHA-licensed laboratory in Dubai Healthcare City. Alternatively, extracted DNA or a dried blood spot on an FTA card may be submitted. All samples are transported under strict temperature-controlled cold-chain protocols to maintain specimen integrity.
3. What is the expected turnaround time for RBCK1 genetic test results?
Results are delivered within 3 to 4 weeks from the date the specimen is received at our laboratory. This timeline includes full gene sequencing, bioinformatic analysis, variant interpretation, and a comprehensive clinical report reviewed by our genetics team. You will receive a secure digital copy and a telephonic counselling session to discuss the findings.
4. Is the RBCK1 genetic test covered by health insurance in the UAE?
We offer direct billing verification through WhatsApp at +971 54 548 8731. Coverage depends on your individual insurance policy and the medical necessity confirmed by your referring physician. Prior to sample collection, you must attend a genetic counselling session with our certified counsellor to document a detailed family pedigree and secure all required approvals.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA) and adheres to all applicable UAE federal laws governing healthcare data and patient privacy. This includes full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all genetic and clinical data processing, Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for secure electronic health records and telemedicine practices, and Federal Decree-Law No. 4 of 2016 on Medical Liability governing patient consent, clinical safety, and professional accountability. Our laboratory holds ISO 9001:2015 certification and strictly enforces access controls, encryption, and data minimization protocols to ensure your genetic information remains confidential and protected.
DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Clinical & Logistical Metadata
| Test Name | RBCK1 Gene Polyglucosan Body Myopathy Type 1 (PGBM1) – Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card (Dried Blood Spot) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Sequencing |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | License No. 1143 |
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