How are relatives screened for acute porphyria?

For relatives who have not had an acute attack, and especially for children, urine testing is often unhelpful. For these people, a special test on blood, and sometimes urine or feces as well, need to be carried out in a specialist reference laboratory. For some families, it is now becoming possible to use DNA tests to detect the gene mutation that causes porphyria. DNA tests are more accurate than other methods but are complicated and are not yet available for all families. Your doctor should be able to arrange specialist testing for you. If you live a long way from a specialist porphyria laboratory, the samples can easily be sent by post.