Test Price
2,800 AEDโ Home Collection Available
MUSK Gene Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary post-test tele-guidance with genetic counselling by a DHA-licensed physician.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- Regulatory Compliance: Full adherence to UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning health ICT.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test analyzes the entire coding region of the MUSK gene to detect pathogenic variants causing congenital myasthenic syndrome (CMS) with acetylcholine receptor deficiency. The assay provides targeted deep sequencing with copy-number variation (CNV) detection, aligned to GRCh38, ensuring high analytical sensitivity for accurate diagnosis.
| Feature | MUSK NGS Test | Closest Alternative (Whole Exome) |
|---|---|---|
| Precision | Targeted deep sequencing of MUSK โ 99.9% analytical sensitivity | Covers all ~20,000 genes, lower depth per gene |
| Method | Illumina NGS with CNV analysis | Exome capture + NGS |
| Turnaround | 3-4 Weeks | 6-8 Weeks |
| Price (AED) | 2,800 | ~5,000 |
Pre-Test Instructions
- A detailed clinical history, including neuromuscular symptoms and family pedigree, must be provided.
- Mandatory pre-genetic counselling session to discuss implications, inheritance pattern, and informed consent.
- Sample collection: 3-5 mL whole blood in EDTA tube, dried blood spot on FTA card, or previously extracted DNA (โฅ 1 ยตg). No fasting or medication adjustment required.
Primary Clinical Specialists & Intent
Confirm CMS diagnosis, guide immunomodulatory therapy, and monitor neuromuscular junction disorders.
Investigate CMS pathophysiology, genotype-phenotype correlations, and novel therapeutic targets.
Request predictive or pre-symptomatic testing after genetic counselling and informed consent.
Physician Insight & Safety Protocols
"As a consultant medical geneticist, I recognise that pursuing a genetic diagnosis for a rare neuromuscular disorder is a deeply personal journey. This test provides clarity, but results must always be interpreted within your full clinical context. Never discontinue or alter any prescribed medication without consulting your treating physician; this information is designed to guide, not replace, your care plan."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
โ Medication Warning
Do not stop, adjust, or start any medication based solely on this test result. Abrupt cessation of prescribed immunosuppressants or acetylcholinesterase inhibitors may precipitate a myasthenic crisis. Always consult your treating physician before making any changes.
Patient Safety Exclusion Criteria
Exclusion Criteria
- Known coagulopathy or severe thrombocytopenia preventing safe venipuncture.
- Active systemic infection requiring hospitalisation.
- Unwillingness to provide informed consent for genetic data handling per UAE PDPL.
Seek Emergency Care Immediately If You Experience
- Sudden worsening of muscle weakness affecting breathing or swallowing.
- New-onset double vision (diplopia) or severe ptosis.
- Respiratory distress or inability to clear secretions.
Patient FAQ & Clinical Guidance
1. What does the MUSK gene NGS test detect?
This NGS test sequences the entire MUSK gene to identify pathogenic variants responsible for congenital myasthenic syndrome with acetylcholine receptor deficiency. The analysis includes copy-number variation detection for comprehensive diagnostic coverage.
2. Who should consider this genetic test?
Individuals with early-onset fatigable weakness, ptosis, or respiratory distress and a family history of congenital myasthenia are ideal candidates. Asymptomatic family members may also consider predictive testing after genetic counselling.
3. How long does it take to receive results?
Turnaround time is 3 to 4 weeks from sample receipt. Genetic counselling is included with every result to help interpret findings and guide next steps.
4. Is home sample collection available for this test?
Yes, VIP mobile phlebotomy and temperature-controlled cold-chain home collection are available daily from 8 AM to 11 PM for standard peripheral blood samples. This service ensures safe and convenient sample collection at your preferred location.
5. How is my genetic data protected under UAE law?
All genetic information is encrypted, stored onshore, and never shared without your explicit consent, in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning health ICT.
UAE Regulatory & Data Privacy Adherence
Legal & Data Privacy Mandates
This service fully adheres to:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic information encrypted, stored onshore, and never shared without explicit consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Secure handling of electronic health data and telemedicine compliance.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Patient consent and clinical safety standards for genetic testing.
- ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139): Quality management across all pre-analytical, analytical, and post-analytical phases.
Clinical & Logistical Metadata
| Test Name | MUSK Gene Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Whole blood (EDTA tube), dried blood spot (FTA card), or extracted DNA (โฅ 1 ยตg). VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. |
| Methodology Used | Illumina NGS with copy-number variation (CNV) detection, aligned to GRCh38 |
| ICD-10-CM Code | G70.2 (Congenital myasthenic syndrome), Z14.01 (Genetic carrier status), Z82.3 (Family history of nervous system disorders) |
| LOINC Code | 10165-4 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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