Test Price
2,800 AED✅ Home Collection Available
SPEG Gene Centronuclear Myopathy Type 5 Genetic Test in UAE – NGS Full Gene Analysis
Executive Summary & Core Metrics
This definitive molecular diagnostic test achieves 99.9% analytical sensitivity for pathogenic variants in the SPEG gene, confirming centronuclear myopathy type 5. Processing is performed under ISO 9001:2015 accreditation with temperature‑controlled cold‑chain logistics.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (available daily 8 AM–11 PM).
- Clinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The SPEG Gene Centronuclear Myopathy Type 5 Genetic Test employs next‑generation sequencing (NGS) to detect single nucleotide variants, insertions, deletions, and copy number variations in the SPEG gene. This assay is indicated for individuals with clinical suspicion of congenital myopathy with central nuclei, offering superior resolution compared to traditional Sanger sequencing.
| Feature | Our Test (NGS Full Gene) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Precision | >99.9% analytical sensitivity for SNVs, indels | ~95%, misses large deletions/duplications |
| Method | NGS with deletion/duplication analysis | Bidirectional Sanger sequencing |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| ISO Accreditation | Yes (ISO 9001:2015) | Rare |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“A molecular confirmation of SPEG‑related centronuclear myopathy gives families a precise diagnosis and allows for tailored clinical surveillance, rehabilitation planning, and reproductive counselling. This NGS test is the gold standard for detecting all variant types in the SPEG gene. However, results must always be interpreted alongside clinical presentation and family history – never as a standalone verdict.”
Important Advisory – Do Not Alter Medications
⚠️ Critical Note:
Do not discontinue prescribed medication without consulting your doctor. This genetic test does not replace ongoing medical management.
Safety & Exclusion Criteria
- Inability to provide informed consent (mandatory for genetic testing).
- Sample quantity insufficient for reliable analysis (requires repeat collection).
- Active systemic infection requiring immediate medical attention – postpone home visit.
Emergency Red Flags:
If you experience severe muscle weakness, respiratory distress, or difficulty swallowing, seek emergency medical care immediately. This test is not a substitute for acute symptom management.
Patient FAQ & Clinical Guidance
1. What is this SPEG gene test used for?
This NGS assay screens the entire SPEG gene to confirm or rule out centronuclear myopathy type 5. It aids in definitive diagnosis, prognosis, and informed family planning decisions.
2. How is the sample collected?
A standard peripheral blood sample (whole blood in EDTA tube) is collected at your home by a DHA‑licensed phlebotomist. The sample is transported under continuous cold‑chain to our ISO‑accredited laboratory. Home collection is available daily from 8 AM to 11 PM.
3. What is the turnaround time and how will I receive results?
Results are delivered within 3 to 4 weeks from sample receipt. You will receive a secure online link to view your detailed report. A telephonic genetic counselling session is included to explain the findings and answer your questions.
4. Is the test covered by insurance?
We offer direct billing verification for many UAE insurance plans. Send your policy details via WhatsApp to +971 54 548 8731 for a pre‑approval check before booking.
UAE Regulatory & Data Privacy Adherence
Your Data, Your Rights – Fully Compliant with UAE Law
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – safeguards your genetic and health data from unauthorised access.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governs secure electronic health records and telemedicine.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability – establishes informed consent requirements and clinical safety obligations.
All data is encrypted, access‑controlled, and never shared without your explicit consent.
Clinical & Logistical Metadata
| Test Name | SPEG Gene Centronuclear Myopathy Type 5 Genetic Test (NGS Full Gene) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection |
| Methodology Used | Next‑Generation Sequencing (NGS) with deletion/duplication analysis |
| ICD‑10‑CM Code | G71.2 |
| LOINC Code | 81260-0 |
| DHA Facility License & Address |
License No. 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab Branding: DNA Labs 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