Malignant hyperthymia testing with NGS. Advancing Pharmacogenetic Testing in a Tertiary Hospital: malignant hyperthymia testing

We conducted a retrospective, single-center study to assess the impact of PGx testing during routine clinical practice at the LPUH Clinical Pharmacogenetics Unit. The malignant hyperthymia testing was performed by analyzing the coding regions of the RYR1 and CACNA1S genes by a massive sequencing panel (NGS). RYR1 and CACN1S genes are only analyzed in patients who have presented an event clinically compatible with malignant hyperthermia.