1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
PREVENTION · PRV07
Malignant Hyperthermia Prevention
Analyzes the two principal genes associated with malignant hyperthermia, a potentially life-threatening reaction to certain anesthetic agents.
Targeted next-generation sequencing of the complete coding sequence and relevant splice regions of the selected genes; this is not a hotspot-only screen.
Clinically classified findings, an explanation of the inherited risk, and recommendations for medical follow-up or preventive discussion.
Confirmed after case and sample review.
CLINICAL VALUE
Where this test is strongest
✓CACNA1S and RYR1
✓The two genes account for more than 70% of reported genetic causes in the referenced portfolio
✓Result can be communicated in perioperative planning
✓Focused and clinically actionable question
LIMITATIONS
What must remain visible
!A predisposition is not a diagnosis and does not predict if or when disease will occur.
!A negative result does not remove all inherited or non-genetic risk; selection and interpretation require medical context.
!A negative result cannot exclude malignant-hyperthermia susceptibility; anesthesiology assessment may still be required.
GENE & ANALYTICAL SCOPE
2 published genes
Focused two-gene susceptibility analysis.
Malignant hyperthermiaPRV07 · 2 published genes+
Complete panel scope (2 genes).
CACNA1SRYR1
BEFORE ORDERING
Confirm the current laboratory specification.
The official case review and quotation confirm eligibility, accepted material, validated coverage and variant classes, consent, turnaround, price, and report pathway.