How Can I Get Tested for Porphyria?

It can be difficult to find a diagnosis for a rare disease, and it can be challenging to find reliable testing for porphyria. When you put these things together, patients who suspect they have porphyria can run into some pretty big problems. And sometimes even with a clear diagnosis it can be hard to get the right treatment—if your doctor or insurance company is not familiar, for example, or even because the doctor’s office is far from home or work.

Unfortunately, there are some websites offering tests and treatments for porphyria directly to consumers. These things are available on the internet and these sites and their products may not be backed by expert medical or scientific research, which means they might not be of much help to patients, and they could potentially do more harm than good.

The APF advisory board of porphyria experts recommends that physicians ordering tests for porphyria should rely on a laboratory with experience in diagnosing the porphyrias, and preferably one that is overseen by an expert in the disease who can offer interpretation of the test results. The APF website has detailed information on how to test for porphyria (including a listing of porphyria laboratories in the United States and internationally) and on the treatments for each of the eight types of the disease. For our members' physicians, we also offer a Physician Education Kit, free of charge.

Remember: it is always a good idea to discuss any treatment or testing with your physician. If you or your doctor have trouble finding the information you need, just call our office—we’re here to help.