Test Price
2,800 AED✅ Home Collection Available
RAPSN Gene Congenital Myasthenic Syndrome Type 11 (Acetylcholine Receptor Deficiency) – Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين RAPSN لمتلازمة الوهن العضلي الخلقي النوع 11 ونقص مستقبلات الأستيل كولين في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Clinical Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next‑Generation Sequencing.
- Premium Logistics: ISO Certified Cold‑Chain Home Collection (8 AM – 11 PM) & VIP Mobile Phlebotomy.
- Clinical Guidance: Complimentary telephonic post‑test result interpretation with a DHA‑licensed clinical expert.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
ملخص تنفيذي
ضمان دقة تشخيصية بنسبة 99.9% من خلال مختبر معتمد آيزو 9001:2015، مع خدمة سحب منزلي على مستوى المستشفى واستشارة طبية بعد الفحص.
Test Overview
This advanced NGS test targets the RAPSN gene to detect causative mutations for congenital myasthenic syndrome type 11 (acetylcholine receptor deficiency). In parallel, يُستخدم هذا الفحص الجيني لتأكيد التشخيص وتوجيه العلاج الدقيق لمتلازمة الوهن العضلي الخلقي النوع 11 المرتبطة بطفرة جين RAPSN.
| 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 Protocol
“Dear patient, understanding the genetic root of your muscle weakness is the first step toward tailored, effective therapy. Dr. Prabhakar Reddy, DHA license 61713011, emphasises that while this test provides highly accurate molecular confirmation, clinical correlation with your symptoms and electromyography (EMG) remains essential—please never adjust or stop medication based solely on this result. If you experience worsening symptoms before receiving your results, contact your neurologist immediately.”
⚠ Medication Warning
Do not discontinue prescribed medication without consulting your doctor.
Safety Exclusion Criteria & Red Flags
- Exclusion: Minors (<18 years) require legal guardian consent as per UAE CDS Law 2026. Sample rejected if hemolyzed, insufficient DNA quantity, or improperly shipped.
- Red Flag – Seek Immediate Emergency Care: Sudden respiratory distress, severe dysphagia with choking, or rapidly progressive ptosis/diplopia. Do not wait for genetic results.
Patient FAQ & Clinical Guidance
1. What is the RAPSN gene test and why is it done?
This specific 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.
١. ما هو تحليل جين RAPSN ولماذا يُجرى؟
يكشف هذا الفحص الجيني الدقيق عن طفرات جين RAPSN لتأكيد متلازمة الوهن العضلي الخلقي النوع 11 وتوجيه العلاج الدقيق.
2. How is the sample collected and what are the requirements?
A simple blood sample or FTA card is needed without fasting; we provide hospital‑grade home collection across the UAE. Pre‑test genetic counseling is mandatory to draw a family pedigree and review clinical history.
٢. كيف تُجمع العينة وما هي المتطلبات؟
تُسحب عينة دم بسيطة أو بقعة على بطاقة FTA بدون صيام؛ نوفر خدمة سحب منزلي بمستوى مستشفى مع جلسة استشارة وراثية قبل الفحص.
3. What do the results mean and how quickly are they available?
Results are reported within 3‑4 weeks, with pathogenic mutations confirming the diagnosis and a telephonic clinical guidance session provided. A negative result may require broader gene panel testing or re‑evaluation of clinical phenotype.
٣. ماذا تعني النتائج وما مدة صدورها؟
تصدر النتائج خلال ٣-٤ أسابيع، وتؤكد الطفرات الممرضة التشخيص مع جلسة توجيهية هاتفية؛ النتيجة السلبية قد تستدعي فحص لوحة جينات أوسع.
Clinical intent: definitive genetic diagnosis and family screening. Designed for Neurologists, Pediatric Neurologists, and Clinical Geneticists managing patients with suspected congenital myasthenic syndrome type 11. DHA facility license: 9834453.
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