Malignant Hyperthermia Susceptibility Panel

Turnaround time: Typically 7-21 days (standard), Typically < 5 days (requery)

Preferred specimen: BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit

Shipping instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.

Malignant Hyperthermia Susceptibility (MHS) is a potentially life-threatening pharmacogenetic disorder characterized by a severe reaction to certain anesthetics. When exposed to these medications, individuals with MHS can experience severe reactions including rapid temperature elevation, muscle rigidity, increased CO2 production, acidosis, and rhabdomyolysis.

STAC3-related congenital myopathy, also known as Native American Myopathy, is a rare inherited muscle disorder characterized by congenital muscle weakness, skeletal abnormalities, and susceptibility to malignant hyperthermia.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.