Test Price
2,800 AED✅ Home Collection Available
RAPSN Gene Congenital Myasthenic Syndrome Type 11 (Acetylcholine Receptor Deficiency) – Genetic Test in UAE
Executive Summary & Core Metrics
Executive Clinical Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next‑Generation Sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary telephonic post‑test result interpretation with a DHA‑licensed clinical expert.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- Clinical Intent: Definitive genetic diagnosis and family screening for Neurologists, Pediatric Neurologists, and Clinical Geneticists managing suspected congenital myasthenic syndrome type 11.
Test Overview & Methodology
This advanced NGS test targets the RAPSN gene to detect causative mutations for congenital myasthenic syndrome type 11 (acetylcholine receptor deficiency). This DNA test identifies RAPSN gene mutations, confirming congenital myasthenic syndrome type 11 for accurate clinical management. It is recommended for patients with muscle weakness from birth, family history, or equivocal electrophysiology.
| Feature | Our RAPSN NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – full coding region + flanking intronic regions | Sanger sequencing – limited to known hot‑spots |
| Detection Rate | >99% for single‑nucleotide, indel, and CNV variants | ~85% (misses deep intronic/exon deletions) |
| Turnaround Time | 3 – 4 Weeks | 6 – 8 Weeks |
| Sample Type | Blood (EDTA whole blood), extracted DNA, or FTA card dried blood spot | Usually blood only |
| Genetic Counselling Included | Yes – pre‑test pedigree session included | Often extra cost |
Physician Insight & Safety Protocols
“Understanding the genetic basis of your muscle weakness lays the foundation for targeted, evidence-based therapy. As Consultant Medical Genetics, I emphasise that this test delivers highly accurate molecular confirmation, yet clinical correlation with your symptom history and electromyography findings remains essential—please never alter or discontinue prescribed medications based solely on this result. If your symptoms worsen before receiving your results, seek immediate neurological evaluation.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication Safety
Do not discontinue or adjust any prescribed medication without direct consultation with your treating physician. Abrupt cessation of neuromuscular therapies may lead to acute deterioration.
Safety Exclusion Criteria & Clinical Red Flags
- Exclusion: Minors (under 18 years) require legal guardian consent with full pedigree documentation. Samples rejected if hemolyzed, insufficient DNA quantity, or improperly shipped without cold‑chain compliance.
- Red Flag – Seek Immediate Emergency Care: Sudden respiratory distress, severe dysphagia with choking, or rapidly progressive ptosis/diplopia. Do not wait for genetic results before seeking acute medical attention.
Patient FAQ & Clinical Guidance
1. What is the RAPSN gene test and why is it performed?
This targeted DNA test identifies RAPSN gene mutations to confirm congenital myasthenic syndrome type 11, enabling precise clinical management. It is indicated for patients with early‑onset muscle weakness, positive family history, or inconclusive electrophysiological studies.
2. How is the sample collected and what are the prerequisites?
A standard blood sample collected in an EDTA tube, extracted DNA, or FTA card dried blood spot is required. No fasting is necessary. Pre‑test genetic counselling is mandatory to construct a three‑generation family pedigree and review clinical history. VIP Mobile Phlebotomy home collection is available daily from 8 AM to 11 PM across all UAE emirates.
3. What do the results mean and when will they be available?
Results are reported within 3 – 4 weeks. Pathogenic mutations confirm the diagnosis and are followed by a complimentary telephonic clinical guidance session with a DHA‑licensed expert. A negative result may necessitate broader gene panel testing or re‑evaluation of the clinical phenotype with your specialist.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All patient genetic data is encrypted, access‑controlled, and processed solely for diagnostic purposes. Clinical safety and patient consent protocols adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is ISO 9001:2015 certified (INT/EGQ/2509DA/3139), ensuring rigorous quality management across every stage of the testing pathway.
Clinical & Logistical Metadata
| Test Name | RAPSN Gene Congenital Myasthenic Syndrome Type 11 (Acetylcholine Receptor Deficiency) – Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Blood (EDTA whole blood), extracted DNA, or FTA card dried blood spot – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next‑Generation Sequencing (NGS) – full coding region plus flanking intronic regions |
| ICD-10-CM Code | G70.2 |
| LOINC Code | 102450-0 |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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