Test Price
2,800 AED✅ Home Collection Available
CACNA1S Gene Malignant Hyperthermia Type 5 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين CACNA1S للكشف عن فرط الحرارة الخبيث من النوع الخامس في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Clinical Executive Summary
- 🏥 Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- 🚑 Premium Logistics: Hospital-Grade Home Collection via ISO-Certified Cold-Chain Transport, including VIP Mobile Phlebotomy (8:00 AM – 11:00 PM daily).
- 📞 Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance for result interpretation by senior laboratory specialists.
- 💰 Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
ملخص تنفيذي
يُقدم هذا الاختبار الجيني المتطور تحليلًا شاملاً لجين CACNA1S باستخدام تقنية التسلسل الجيني من الجيل التالي (NGS) للكشف عن القابلية للإصابة بفرط الحرارة الخبيث من النوع الخامس، وهو اضطراب دوائي جيني يهدد الحياة ويحدث نتيجة التخدير بمواد معينة.
حساسية تشخيصية تصل إلى 99.9% عبر مختبر معتمد بمواصفة ISO 9001:2015، مع خدمة سحب عينات منزلية ممتازة وتوجيه سريري هاتفي بعد صدور النتائج.
الترخيص: 9834453 | شهادة الآيزو: INT/EGQ/2509DA/3139
Overview
The CACNA1S Gene Genetic Test is a comprehensive pharmacogenetic screening tool designed to detect pathogenic variants in the CACNA1S gene associated with Malignant Hyperthermia Susceptibility Type 5 (MHS5), a life-threatening hypermetabolic crisis triggered by volatile anesthetics and depolarizing muscle relaxants such as succinylcholine. هذا الاختبار الجيني المتقدم يكشف عن الطفرات الوراثية في جين CACNA1S المرتبطة بفرط الحرارة الخبيث، مما يمكّن الأطباء والمرضى من اتخاذ تدابير وقائية منقذة للحياة قبل أي إجراء جراحي يتطلب تخديرًا عامًا.
| Feature | Our Test — NGS (DNA Labs UAE) | Closest Alternative — Sanger Sequencing |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) — Full Gene Coverage | Sanger Sequencing — Targeted Exon Analysis Only |
| Diagnostic Sensitivity | 99.9% — All CACNA1S Coding Regions Captured | ~95% — Limited to Pre-Selected Hotspot Regions |
| Turnaround Time | 3 to 4 Weeks with ClinVar-Annotated Bioinformatics | 2 to 3 Weeks — Manual Variant Interpretation |
| Variant Detection | SNVs, Indels, CNVs — Comprehensive Structural Variant Analysis | SNVs and Small Indels Only — No CNV Detection |
| Clinical Utility | Pre-Anesthetic Risk Stratification + Family Cascade Screening Ready | Basic Mutation Confirmation — Limited Familial Correlation |
Physician Insight & Safety Protocol
"As a clinical pathologist with decades of experience in pharmacogenetic diagnostics, I emphasize that the CACNA1S NGS test is not merely a laboratory procedure — it is a critical pre-anesthetic safety intervention that can prevent catastrophic hypermetabolic crises. Every patient with a family history of adverse anesthesia reactions or unexplained perioperative complications should undergo this screening. Please remember that this genetic report must always be correlated with clinical findings and family pedigree data for a definitive risk assessment."
— Dr. Prabhakar Reddy, DHA License: 61713011, Clinical Pathology & Laboratory Medicine
⚠️ Critical Medication Warning
Do not discontinue any prescribed medication without consulting your treating physician. The CACNA1S genetic test identifies susceptibility to specific anesthetic agents (volatile halogenated anesthetics and depolarizing neuromuscular blockers). Patients with confirmed MHS5 mutations must inform their anesthesiologist prior to any surgical procedure requiring general anesthesia. This test does not replace an in-vitro contracture test (IVCT) where clinically indicated.
🚨 Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria — Do Not Proceed If:
- Patient has received a blood transfusion within the preceding 14 days
- Incomplete or unavailable family pedigree chart (Genetic Counselling session required first)
- Patient is unable to provide informed consent (mandatory for genetic testing under UAE CDS Law 2026 for minors)
- Active chemotherapy or recent bone marrow transplant (may cause somatic mosaicism interference)
Emergency Red Flags — Seek Immediate Medical Attention:
- Unexplained high fever (>40°C / 104°F) during or within hours of general anesthesia
- Severe muscle rigidity (masseter spasm or generalized rigidity) following anesthetic induction
- Dark or cola-colored urine (rhabdomyolysis) within 24 hours post-anesthesia
- Tachycardia (>120 bpm), metabolic acidosis, and hypercarbia unresponsive to ventilation adjustment
UAE Regulatory Compliance: This test adheres to Federal Decree-Law No. 41 of 2024 (Article 87), UAE PDPL Data Privacy Standards, and CDS Law 2026 provisions for genetic testing in minors. All patient data is processed under ISO 9001:2015 certified protocols.
Patient FAQ & Clinical Guidance
1. What exactly does the CACNA1S gene test detect, and who should consider it?
The CACNA1S Genetic Test identifies pathogenic mutations causing malignant hyperthermia susceptibility type 5, a potentially fatal anesthetic reaction in genetically predisposed individuals. This test is recommended for patients with a personal or family history of adverse anesthesia reactions, unexplained perioperative cardiac arrest, masseter muscle rigidity during intubation, or elevated creatine kinase levels of unknown etiology. Individuals with confirmed first-degree relatives carrying a CACNA1S mutation should also undergo cascade screening.
يُوصى بهذا الاختبار للأشخاص الذين لديهم تاريخ شخصي أو عائلي من ردود الفعل التخديرية الضارة، أو تصلب العضلات أثناء التخدير، أو ارتفاع إنزيم الكرياتين كيناز غير المبرر.
2. How is the sample collected and what preparation is required?
A DHA-licensed phlebotomist collects a simple blood sample or single FTA card drop at your home, anytime between 8 AM and 11 PM. No fasting or special preparation is required prior to sample collection. The test accepts three sample types: whole blood collected in an EDTA tube, previously extracted genomic DNA, or a single drop of blood dried on an FTA card. A mandatory pre-test genetic counselling session is required to document the family pedigree chart of affected members, as mandated by UAE genetic testing regulations.
لا يتطلب الاختبار صيامًا أو تحضيرات خاصة. تُسحب العينة في المنزل عبر ممرض مرخص من هيئة الصحة بدبي، مع جلسة استشارة وراثية إلزامية لتوثيق التاريخ العائلي.
3. How long do results take and what actions follow a positive finding?
Results take three to four weeks and include a detailed clinical report with telephonic specialist guidance for interpretation at no additional cost. A positive result indicates the presence of a pathogenic or likely pathogenic CACNA1S variant, confirming malignant hyperthermia susceptibility type 5. Patients receive a laminated medical alert card for presentation to future anesthesiologists. Cascade testing for at-risk family members is strongly recommended. A negative result reduces but does not entirely eliminate MH risk; clinical vigilance during anesthesia remains essential.
تصدر النتائج خلال ثلاثة إلى أربعة أسابيع مع تقرير سريري مفصل وإرشادات هاتفية من أخصائي. النتيجة الإيجابية تتطلب بطاقة تنبيه طبية وإجراء اختبارات متتالية لأفراد الأسرة المعرضين للخطر.
Clinical Specialists & Referral Pathways
The CACNA1S NGS test is clinically indicated and frequently ordered by the following DHA/MOHAP-registered specialists:
Primary specialist for muscle channelopathies, periodic paralysis, and MH-associated myopathies requiring differential diagnosis.
Evaluates athletes with unexplained exertional rhabdomyolysis, recurrent cramping, or exercise intolerance linked to CACNA1S variants.
Facilitates genotype-phenotype correlation studies, biobank annotation, and pharmacogenetic research under UAE research ethics committee approval.
Pre- Requirements
- Complete clinical history documentation including all prior anesthetic exposures and adverse reactions
- Mandatory genetic counselling session to construct a comprehensive three-generation pedigree chart of family members affected by or suspected of malignant hyperthermia
- Signed informed consent form compliant with UAE PDPL and Federal Decree-Law No. 41 of 2024
- For minors: additional parental or legal guardian consent as stipulated by UAE CDS Law 2026
- Drug and supplement disclosure: patients must inform the ordering physician about all current medications, herbal supplements, and over-the-counter preparations prior to testing
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