RYR1Your two copies: Reference/Reference
Risk geneNo known risk variants found
A muscle channel. Rare changes in it can cause a dangerous reaction to some anesthetics.
This result doesn't change the label.
Example report. The whole genome example: a public genome from the 1000 Genomes Project, with CYP2D6 Structural Analysis, so you can see what yours will look like. Get your own report
AnestheticsExample report
Methoxyflurane
No known risk variants found
We checked the known malignant hyperthermia genes in your DNA and found no listed risk variants. This doesn't rule out the risk: about half of people who have had this reaction carry no known variant. Tell your anesthesiologist about any personal or family history of reactions to anesthesia.
The genes behind this label
The guidelines read 2 genes for methoxyflurane. Each card shows the two copies this person inherited and what they mean.
CACNA1SYour two copies: Reference/Reference
Risk geneNo known risk variants found
A muscle channel. Rare changes in it can cause a dangerous reaction to some anesthetics.
This result doesn't change the label.
What the guidelines say
What each guideline says about your result.
RYR1No known risk variants foundCACNA1SNo known risk variants found
CPIC guideline, both genes together
Read the guideline (Clinical Pharmacogenetics Implementation Consortium, opens in a new tab)
- In plain words
- We checked the known malignant hyperthermia genes in your DNA and found no listed risk variants. This doesn't rule out the risk: about half of people who have had this reaction carry no known variant. Tell your anesthesiologist about any personal or family history of reactions to anesthesia.
- What it means
- No known CPIC-listed malignant-hyperthermia-associated variants were identified in RYR1 or CACNA1S in the supplied WGS data. These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675).
- What the guideline suggests
- Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.
CPIC reads your RYR1 and CACNA1S results together for methoxyflurane, so this label reflects both genes.
About methoxyflurane
Methoxyflurane is one of the potent volatile anesthetics that CPIC names as malignant hyperthermia (MH) triggers.
- Used for
- Emergency relief of moderate to severe trauma pain in conscious patients aged 6 and older (UK licence)
Others in anesthetics
Compare all 8 anestheticsDon't change a dose on your own. Bring this report to your prescriber or pharmacist. They can weigh it with everything else they know about you.