DNA Testing for HCM - (updated April 2007)
A gene test is available, since last year (2006), for identifying cats with a specific genetic mutation in the Myosin Binding Protein C 3 (MyBPC 3) gene, also called HCM1. This mutation has been shown to be associated with HCM in a colony of Maine Coon cats. It is now clear that this mutation is also associated with an increased risk for clinical HCM in the general Maine Coon cat population. It is currently not known exactly how increased this risk is. Future prospective studies are required to obtain more precise risk estimates.
It should be noted that in humans with the same disease, there are many different genetic mutations which can cause this disease. Presumably, the situation is similar in cats. In the statistics currently available, approximately half of the Maine Coon cats, which have been diagnosed with HCM by echocardiography or necropsy have the HCM1 mutation. Obviously, the remaining half have HCM from other causes, probably other mutations.
This means that the absence of the mutation in a cat DOES NOT mean that it will never develop HCM. It means that it does not have the only presently known mutation that can cause the disease in the cat. In the future, additional mutations may be identified that may be tested for as well. Cats that are positive for the test will not necessarily develop significant heart disease and die from the disease. Some cats will develop a very mild form of the disease and will live quite comfortably, and some might even never develop any signs of the disease. It is not known at this time what makes one cat with the mutation develop HCM early, while another cat develops a much milder and later form, or no signs at all of any heart disease. Hopefully, more will be known about this in the future.
How do I test my cats?
If you wish to DNA test your cat(s) for the MyBPC 3 mutation, you can test with eighter with a blood sample or with a cheek swab.
There are many, many labs but in the link Labs here in the menu, you can find a selection of labs just to get a hint.
Read closely in the instructions of the lab you choose so that you will have it done correctly.
How do I get the results public on PawPeds?
In order to have your cat's result registered in the health program, you have to send in a copy of the result to the registrar. You can find the contact info in the contact-link in the menu.
You can also click here:
For the time being, we will accept to publish results of cats that were not ID checked; the result in PawPeds will then carry the remark: No permanent ID. However, we urge owners to have the identity verified by their vet as the trust in the registry might be affected negatively if too many results lack this verification. If we receive too many results lacking the ID check in the future, we might have to start refusing to publish these results in order to maintain the credibility of the health program.