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Testing for Porphyria

There are several ways employed in the testing of Porphyria, this complex disease is not always easy to diagnose and several tests are used to determine the results


What type of tests are necessary to diagnose Porphyria?


Dependent on the type of  Porphyria, blood, urine, and stool samples are required. These are sent to select laboratories to carry out the tests.  Genetic / DNA testing is also used extensively nowadays, this is done either by a blood test or saliva sample. This is very useful for checking if other family members are affected. The draw back is that this cant always be used to confirm a diagnosis due to the many genes in individuals. Biochemical testing is used together with an assessment of the symptoms. 


 New babies of gene carriers can be tested at birth (umbilical cord testing), or tested in the months after birth very easily with swabs taken from the mouth.

The process behind the testing of samples can be a complex exercise, porphyrins are affected negatively by light. In order that the  samples are not compromised, stool, urine and blood test sample containers should be wrapped  in foil before sending to the laboratory.


The porphyrin test is a spectroscopy test that is done to check for the levels of porphyrins in the body. This is one of the tests done to diagnose porphyria, The porphyrin test checks for the presence of porphobilinogen and other types of porphyrins in the body. The urine porphyrin test is usually the first test that can detect this.  

One of the challenges in testing for Porphyria is that often the levels of porphyrins may be normal in people with Porphyria, especially if they dont show current symptoms or are in an acute attack.

Prophyrin levels can also be raised in people who dont have porphyria but have other medical conditions.

Diagnostic testing should be done by a specialist laboritory that has the experience and is set up to test for porphyria. This helps to interpret the exact pattern for each type of porphyria and thus the results will be accurate



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