CLINICAL RESPONSE TO INHALATIONAL ANESTHETICS (DESFLURANE, ENFLURANE, ISOFLURANE, SEVOFLURANE, METHOXYFLURANE): CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
Delivery time
3-4 weeks
Sample
Blood
The Clinical Response to Inhalational Anesthetics panel is designed to detect genetic variants that predispose individuals to malignant hyperthermia, a potentially lethal pharmacogenetic reaction triggered by volatile anesthetics or depolarizing muscle relaxants. The study includes the RYR1 gene, which encodes the ryanodine receptor of the sarcoplasmic reticulum and is the main genetic cause of malignant hyperthermia and associated myopathies, and the CACNA1S gene, involved in the regulation of muscle calcium influx. Identifying pathogenic variants in these genes allows for confirmation of susceptibility to malignant hyperthermia, prevention of severe adverse reactions through the selection of safe anesthetic agents, and appropriate genetic counseling for at-risk family members. Key genes analyzed: RYR1 and CACNA1S.
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