CACNA1S Gene Malignant hyperthermia type 5 NGS Genetic Test
Also known as: CACNA1S Gene Test, Malignant Hyperthermia Genetic Test, MH Type 5 NGS Test
CACNA1S Gene Malignant hyperthermia type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of the CACNA1S Gene Malignant Hyperthermia Type 5 NGS Genetic Test is to diagnose malignant hyperthermia type 5 caused by mutations in the CACNA1S gene. This helps identify individuals at risk, enabling preventive strategies such as avoiding triggering anesthesia drugs, and informs family members about potential risks.
- Test Code
- 1673
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No special preparation is required. Inform the healthcare provider about any medications or medical conditions.
Method: Venipuncture
Laboratory Analysis
A small blood sample will be collected via venipuncture from a vein in the arm.
Report Delivery
Apply pressure to the collection site to prevent bruising. Resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CACNA1S Gene Malignant Hyperthermia Type 5 NGS Genetic Test is to diagnose malignant hyperthermia type 5 caused by mutations in the CACNA1S gene. This helps identify individuals at risk, enabling preventive strategies such as avoiding triggering anesthesia drugs, and informs family members about potential risks.
How to Prepare
- Ensure the patient is hydrated
- Use aseptic technique
- Label the sample correctly
- Transport to lab at ambient temperature
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early detection through genetic testing can help prevent life-threatening reactions during anesthesia for individuals at risk of malignant hyperthermia."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrectly labeled or contaminated sample
Understanding Your Results
No pathogenic variants detected; low risk for CACNA1S-related malignant hyperthermia
Result type: Normal
Pathogenic variants detected; increased risk for malignant hyperthermia; consult a genetic counselor
Result type: Abnormal
Genetic variant identified but clinical significance unknown; further testing or family studies may be needed
Result type: Variant of Uncertain Significance
If the test result is abnormal or if you experience symptoms of malignant hyperthermia during or after anesthesia, seek immediate medical attention and consult a genetic counselor for further guidance.
Limitations
- ⚠This test only analyzes the CACNA1S gene and may not detect all causes of malignant hyperthermia
- ⚠False negatives or positives are possible due to technical factors
- ⚠Genetic variants of uncertain significance may be identified
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection or fainting
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Improper sample collection or storage
- ●Technical errors in sequencing
Frequently Asked Questions
What is the CACNA1S Gene Malignant Hyperthermia Type 5 NGS Genetic Test?
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Can the test diagnose all types of malignant hyperthermia?
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Is genetic counseling recommended?
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