Article

Genetic Testing for Malignant Hyperthermia Susceptibility – Threading the Needle in the Haystack

2025-08-25

Abstract excerpt

Malignant hyperthermia (MH) is a rare pharmacogenetic disorder triggered by volatile anesthetics and succinylcholine, most often linked to pathogenic variants in RYR1, CACNA1S, and STAC3. The advent of next-generation sequencing (NGS) has transformed MH diagnostics, offering new opportunities for perioperative risk assessment as caffeine-halothane contracture testing declines. However, challenges remain, including...

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Literature Corpus work: 2219e170-13c0-51fe-be5c-9532654e6dcb
DOI: 10.20944/preprints202508.1695.v1

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