How is CTD tested?
There are 3 different ways:
1. Measuring the content of carnitine in the blood. Since it is not possible to measure the content of carnitine in the cells, the carnitine level is instead measured in the blood. There are several ways to determine the level of carnitine in the blood, and therefore many numbers for what the normal level is. So to determine the numerical number, it is important to know the normal value of the actual analysis. See guide on numbers in the FAQ section.
2. Genetic research. CTD in the Faroe Islands is often due to a gene variant called N32S, but there are also five other gene variants in the Faroe Islands. Four of them are clearly described and can be pointed out with a gene test. The last variant is not easy to examine, and this is why genetic research is not used, since there is a danger in overseeing CTD patients, who have this unknown variant.
3. Measuring the activity of the carnitine transporters on cultivated skin cells. This is a very lengthy and expensive examination, which is only considered in a few cases, where there is a strong suspicion that the patient has CTD, and when there is no other way to diagnose the illness.