Measurement of porphyrins and porphyrin precursors in blood,
urine and faeces are the main tests for assessing patients with
symptoms that may be caused by porphyria. Measurement of enzyme
activities in cells and DNA testing for mutations are most
useful for assessing people who may be affected but do not
currently have symptoms and close relatives of affected persons.
- Measurement of porphobilinogen or PBG in urine is the most
important test for diagnosing an acute neurological porphyria. -
Measurement of porphyrins in urine, faeces, red blood cells and
blood plasma are used to differentiate the various types of
porphyrias that may have the same symptoms. - Measurement of
enzyme activity in red blood cells may be used to identify
relatives of persons with AIP who also are potentially affected.
- Identification of specific mutations in genes (DNA testing) is
used to identify potentially affected persons and is available
through Porphyria Specialist Laboratories (see the list for
links at the end of this arti