Test Price
2,800 AED✅ Home Collection Available
CACNA1S Gene Malignant Hyperthermia Type 5 Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- 🏥 Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- 🚑 Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8:00 AM – 11:00 PM daily, all Emirates).
- 📞 Clinical Guidance: Complimentary telephonic post-test result interpretation by a Consultant Medical Genetics specialist.
- 💰 Price: 2,800 AED — Insurance Direct Billing Verification via WhatsApp at +971 54 548 8731.
The CACNA1S NGS test is a pharmacogenetic screening tool for malignant hyperthermia susceptibility type 5 (MHS5), a life-threatening hypermetabolic crisis triggered by volatile anesthetics and depolarizing muscle relaxants. Early detection enables pre-anesthetic risk stratification and family cascade screening.
DHA Facility License: 1143 | ISO 9001:2015 Cert: INT/EGQ/2509DA/3139
Test Overview & Methodology
The CACNA1S Gene Genetic Test uses next-generation sequencing (NGS) to detect pathogenic variants in the CACNA1S gene associated with Malignant Hyperthermia Susceptibility Type 5 (MHS5). The assay covers all coding exons and intron-exon boundaries, enabling detection of single nucleotide variants (SNVs), small insertions/deletions (indels), and copy number variants (CNVs). Bioinformatics analysis uses ClinVar-annotated pipelines for variant classification per ACMG guidelines.
| 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 Protocols
"The CACNA1S NGS test represents 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. The genetic report must always be correlated with clinical findings and family pedigree data for a definitive risk assessment."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Critical Medication Advisory
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 PDPL 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
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.
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.
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.
4. What specialists typically order this test and why?
Neurologists, anesthesiologists, and clinical geneticists are the primary referring specialists. Neurologists evaluate muscle channelopathies and periodic paralysis; anesthesiologists perform pre-operative risk assessment; clinical geneticists provide familial cascade screening and genotype-phenotype correlation. Sports scientists may also request testing for athletes with unexplained exertional rhabdomyolysis or exercise intolerance linked to CACNA1S variants.
5. What pre-test documentation is required before sample collection?
Patients must provide a complete clinical history, a three-generation pedigree chart, and a signed informed consent form. All prior anesthetic exposures and adverse reactions must be documented. For minors, additional parental or legal guardian consent is required per UAE data protection and genetic testing regulations. A full drug and supplement disclosure is also mandatory prior to testing.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Compliance
All patient data is processed 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. Clinical safety and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
The laboratory holds ISO 9001:2015 certification (Certificate: INT/EGQ/2509DA/3139) and operates under DHA Facility License No. 1143. Genetic data is encrypted, access-controlled, and retained only for the duration required by UAE health data retention laws. Patients retain the right to access, correct, or request deletion of their personal data under PDPL Article 14.
Clinical & Logistical Metadata
| Test Name | CACNA1S Gene Malignant Hyperthermia Type 5 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card Drop |
| Methodology Used | Next-Generation Sequencing (NGS) — Full Gene Coverage |
| ICD-10-CM Code | Z15.09 |
| LOINC Code | 94869-5 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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