PGx malignant hyperthermia

Synonyms: MH, RYR1, CACNA1S, ryanodine receptor, dihydropyridine receptor

Material:

EDTA blood
(1 ml), buccal swab

TAT:

3-6 weeks

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

Pharmacological background

Tested variants

Result interpretation

Test limitations

Clinical relevance

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

References

Created by

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 .

Last Update : 24.09.2026

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