So, first off, I know that genetic tests are usually risk factors and not diagnostic. But I have one result in my report that is not marked as risk factor, but instead as “highly pathogenic”. Since it is for an often fatal reaction to anaesthetics I would like to know more specifically what this means. Hoping someone more knowledgable than me in genetics can help me out. I attempted to do a bit of research, and it seems that: - the condition - “malignant hyperthermia” is indeed genetic - The mutation I have does appear to be legitimately very rare - The condition CAN be diagnosed by genetic tests. BUT The research is largely over my head, and I am unclear as to whether the genetic result I had is the same test / would be sufficient for diagnosis. basically would like to clarify in case I am ever in the position of needing to know whether or not I can safely be given one of these anaesthetics. To make things more confusing, my mother had a life-threatening reaction to one of the anaesthetics on this list, but she was told it was a DIFFERENT genetic condition (pseudocholinesterase deficiency), though I am not sure they did any genetic testing specifically (she is not 100% sure how they determined what caused the reaction, just that they “did tests” after her incident - judging by how quickly they got results I don’t think they were genetic tests). It would seem to be astronomical odds to have two different extremely rare genetic reactions to the same anaesthetic in one family, but what do I know Here is the Promethease interpretation: rs200563280(C;T) malignant hyperthermia Associated with malignant hyperthermia based on rs200563280, aka p.Arg2241X or p.R2241X, is a SNP in the RYR1 gene deemed highly pathogenic for malignant hyperthermia. from dbSNP: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs200563280#locus and here is a link to this SNP on "clinvar" : (note that there is one "conflicting" study but it appears to be for a different disease): http://www.ncbi.nlm.nih.gov/clinvar/variation/159856/ TIA for any help.