RYR1 & CACNA1S Pharmacogenomic Panel
Why Pre-operative Genotyping Saves Lives
Event Incidence in the OR
Clinical MH crises occur in roughly 1 in 10,000 pediatric and 1 in 50,000 adult anesthetics.
Genetic Prevalence
Pathogenic variants are found in ≈ 1 in 1,556 people—far more common than the reaction itself.
Inheritance
Autosomal-dominant. Every first-degree relative of a carrier has a 50% risk.
Genes We Analyze & Disease Mechanism
| Gene | Normal Function | Pathogenic Effect |
|---|---|---|
| RYR1 | Releases Ca²⁺ from sarcoplasmic reticulum | Creates a “leaky” channel → runaway Ca²⁺ release |
| CACNA1S | Voltage-sensor that activates RYR1 | Abnormal gating amplifies RYR1 activation |
Who Should Be Tested?
Personal/family history of anesthetic complications
Documented or strongly suspected MH episode
First-degree relative with positive IVCT/CHCT or known variant
Unexplained peri-operative death with MH-like signs
Elite athletes or military personnel exposed to heat stress
Exercise-induced rhabdomyolysis / heat stroke
Pre-surgical patients in high-risk specialties
Your Journey with Genolife Services
Pre-test Counselling
Understand benefits, limits, and inheritance.
Sample Collection
3 mL EDTA blood.
Expert Interpretation
Review by Clinical Geneticist, Counselor, Pharmacologist, and Anesthesiologist.
Post test
Close the loop; each first-degree relative has a 50% risk.
Ready to plan for a safer health future?
Contact us for a consultation with our Genetic Counselor/Pharmacogenomics Specialist about the Malignant Hyperthermia (MH) Screening or other genetic tests.
References
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- Information and guidelines derived from NCBI GeneReviews and other clinical sources.
