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Test Price

2,800 AED

✅ Home Collection Available

CCDC78 Gene Centronuclear Myopathy Type 4 Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

  • 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 and VIP Mobile Phlebotomy.
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation with DHA‑licensed specialists.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This advanced Genetic Test analyses the entire coding sequence of the CCDC78 gene to detect pathogenic variants responsible for autosomal recessive centronuclear myopathy type 4. It delivers definitive molecular confirmation for individuals with clinical suspicion of congenital myopathy, enabling precise genetic counselling and personalised management in the UAE healthcare system.

Feature Our Test Closest Alternative
Precision NGS full gene sequencing with 99.9% sensitivity Single‑gene Sanger sequencing, limited variant detection
Method Illumina® NovaSeq™ NGS platform, clinically validated Capillary electrophoresis (Sanger), lower throughput
Turnaround Time 3 to 4 weeks with ISO cold‑chain logistics 4–6 weeks, risk of sample degradation
Specialist Network Neurologist, Medical & PhD Researchers, Laboratory Scientists Limited to single‑specialty reporting

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403):

“This NGS test provides a molecular footprint that is invaluable for confirming centronuclear myopathy type 4, but it is not a substitute for thorough clinical evaluation. Every result must be interpreted alongside neuromuscular examination, electromyography, and family history. Please ensure that all clinical indications have been assessed by a qualified neurologist prior to testing.”

Safety Advisory

⚠️ Pre-Test Considerations

Do not discontinue prescribed medication without consulting your doctor.

Exclusion Criteria: Unwillingness to provide informed consent, minors without legal guardian consent (as per Federal Decree-Law No. 4 of 2016 on Medical Liability), active febrile illness or bleeding disorders that preclude safe blood draw.

Emergency Red Flags: If you experience sudden respiratory distress, severe muscle weakness that compromises swallowing or breathing, or loss of consciousness, go to the nearest emergency department immediately – do not wait for sample collection.

Patient FAQ & Clinical Guidance

1. What is the CCDC78 gene test for centronuclear myopathy type 4?

This test sequences the entire CCDC78 gene to identify disease‑causing mutations, providing a definitive molecular diagnosis for autosomal recessive centronuclear myopathy type 4 and guiding treatment decisions.

2. Why is genetic counselling required before this test?

Genetic counselling ensures you fully understand the implications of a positive result, creates a family pedigree, and supports informed consent in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.

3. How accurate is this NGS test in diagnosing centronuclear myopathy?

With a diagnostic sensitivity of 99.9% for targeted gene regions and ISO‑validated bioinformatics, it is the most accurate genetic test available for CCDC78‑associated myopathy.

4. What sample is required and how is it collected?

A standard peripheral blood sample (5 ml in EDTA tube) is required. Our VIP Mobile Phlebotomy service offers temperature‑controlled home collection daily from 8 AM to 11 PM.

UAE Regulatory & Data Privacy Adherence

  • Licensed by Dubai Health Authority (DHA) under Facility License No. 1143.
  • Operates in full adherence to Federal Decree-Law No. 4 of 2016 on Medical Liability for clinical safety and patient consent.
  • Compliant with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for health data handling.
  • Data privacy governed by the Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL); all biological samples and results are encrypted and stored in UAE‑based secure servers.
  • ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
  • Methodology accredited by international NGS standards; obsolete methods replaced with LC‑MS/MS validated NGS pipeline.
  • Specialist Network includes Consultant Medical Genetics, Neurologists, and PhD Researchers ensuring end‑to‑end clinical quality.

Clinical & Logistical Metadata

Test Name CCDC78 Gene Centronuclear Myopathy Type 4 Genetic Test
Price (AED) 2,800 AED
Turnaround Time 21–28 days
Sample Type / Matrix Peripheral whole blood (EDTA tube)
Methodology Used Next-Generation Sequencing (NGS) – Illumina NovaSeq platform
ICD-10-CM Code G71.2, G71.20
LOINC Code 97996-0
DHA Facility License & Address License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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