PGx malignant hyperthermia

Synonyms: MH, RYR1, CACNA1S, ryanodine receptor, dihydropyridine receptor
Material
Material:
EDTA blood
(1 ml), buccal swab
Untersuchungsdauer
TAT:
3-6 weeks
Contact
Methode
Method:
NGS, CNV
Overview

Malignant hyperthermia is an inherited disorder of skeletal-muscle calcium regulation in which halogenated volatile anaesthetics and the depolarising muscle relaxant succinylcholine can trigger a life-threatening hypermetabolic crisis in predisposed individuals. Susceptibility arises predominantly from pathogenic variants in RYR1 or CACNA1S. This analysis examines both genes and reports whether a variant listed as pathogenic or likely pathogenic by the is present, which also allows targeted testing of at-risk relatives.

PGx malignant hyperthermia
2 Gene(s)*
CACNA1S
RYR1


Indication
ICD-10 
Gene
OMIM
Malignant hyperthermia T88.3 CACNA1S 114208 
Malignant hyperthermia T88.3RYR1 180901 

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Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last content review: August 4, 2026. As pharmacogenomic evidence and recommendations continue to evolve, the information presented on this page may not always reflect the latest updates. For current guidance and annotations, please refer to .

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