P120: Prevalence of malignant hyperthermia symptoms in patients receiving RYR1 results through a population genomic screening program

摘要: MethodsMyCode-identified P/LP variants in RYR1 are clinically confirmed in a CLIA/CAP-certified laboratory and returned to patients and their primary care clinicians. Genetic counseling is offered, and results are uploaded into the EHR, including notation in the allergy list. Patients with results returned through April 2021 were evaluated between September 2020-April 2021 via double coded chart reviews and reconciliation. Genetic counselors reviewed the ambulatory record for any reference to pertinent symptoms, including myalgias, myopathy, rhabdomyolysis, and heat stroke. Anesthesiologists completed chart reviews on available anesthesia records including use of any TA, lab values, and symptoms during perioperative and postoperative periods. An additional review was completed between April 2022-August 2022 for surgeries where symptoms were present to further evaluate suspicion of an MH reaction …