• Wednesday, March 10, 2021

Medical Moment~


My DNA analysis by a certified lab was negative but I’m sure that I have porphyria. What do I do next?

Depending on the type of porphyria you have, biochemical testing should be performed prior to genetic testing. For the acute porphyrias, the most important tests are urine delta-aminolevulinic acid and porphobilinogen, which are always elevated during acute porphyria attacks. In the cutaneous porphyrias, urine or plasma fractionated porphyrin testing is recommended. While all porphyrias are inherited, porphyria cutanea tarda can develop in the absence of a genetic mutation in the UROD gene.