How is Porphyria diagnosed?

Porphyria is diagnosed through blood, urine and bowel movement testing. Porphobilinigin and porphyrins are looked for in those tests.

Once diagnosed, a patient should seek care from a hematologist or other doctor specializing in porphyria.

Through urine or stool samples. Thy type of porphyria is easily determined by genetic testing

You need to take specific lab analysis of porphyrins in urine or blood or genetic testing. There is no variables in regular analysis that can tell you if you have porphyria.

Difficult. Blood//urine//genetic testing. Average diagnosis takes 12 years.

BY A GENETIC TEST, THEY ARE ALSO QUANTIFICATION OF PBG TEST BUT ARENT AS SPECIFIC AS THE GENETIC TEST

There are several tests that are performed including genetic or DNA testing. Samples of urine, blood and stool are used to diagnose as well. When sending in samples for testing it is important once these samples have been collected that the specimens are labelled, covered in tinfoil to avoid exposure to any form of light. If this is not done the test results will be compromised and the results will not be conclusive. The samples are sent on to specialised laboratories who have the know how to carry out the tests.

With Variegate Porphyria (VP)
2.2.1- Acute neurovisceral attack +/- skin lesions
Increased urinary PBG excretion, with a plasma porphyrin fluorescence emission peak at 624-627nm. If plasma porphyrin fluorescence spectroscopy is not available or further confirmation is required, faecal porphyrin analysis shows increased protoporphyrin and, to a lesser extent, coproporphyrin concentrations with coproporphyrin III/I ratio greater than 2.0.

2.2.2- Skin lesions alone
As above, except that urinary PBG excretion is often only slightly increased or normal.
Note: urinary coproporphyrin III excretion is increased during acute and cutaneous phases but urinary analysis alone is not sufficient to establish or exclude the diagnosis of VP unequivocally.
An increased plasma porphyrin fluorescence emission peak at 624-627 nm differentiates VP from all other porphyrias. The fluorescence spectrometer used for its detection must be fitted with a red-sensitive photomultiplier and a reference range for normal plasma must be established for that spectrometer. Plasma from patients with EPP may show a fluorescence peak at around 628nm if globin from haemolysed erythrocytes is present in the sample.
Faecal protoporphyrin concentrations are usually at least 2-fold greater than coproporphyrin.
However, protoporphyrin is less fluorescent than coproporphyrin. For this reason, unless standards are used, HPLC traces may show coproporphyrin and protoporphyrin peaks of similar size.
PBG excretion is initially greatly increased during an acute attack as in AIP but may decrease to near normal levels within 7 days of onset of symptoms and become normal within 3 weeks. ALA excretion is increased to a lesser extent than PBG.

Porphyria is diagnosed by a special three day urine collect test to see if you have the porphyrin marker in your urine. Also they can do a gene test to see what your mutations are. Porphyria can present with different and unique symptoms beside the norm. These are usually different per person or family line. Getting the gene test is secondary to the urine test. When you suspect you are having precipitation of the an attack you can go to the hospital and get a blood screen and a urine or fecal test to see if you have porphyrins in you system. Sometimes, however, you can be in the middle of an attack and not show these thing in you bodily fluids.