Genetic Testing of FCS
FCS can be easily identified through a genetic test. The test usually involves giving consent for a sample of saliva, taken as a mouth swab, to be sent to a laboratory (in Aberdeen) with the result being reported at an appointment with your lipid consultant at a later date. This can take some time.
There is currently work being undertaken to find as many patients from (mostly) lipid clinics that have a triglyceride level greater than 20 mmol/L to see how many have mutations in known genes and to search for mutations in genes associated with triglyceride metabolism that have not previously been known to cause a FCS-like syndrome.
Information about how you can be included in this research will be available soon.