Acute intermittent porphyria
Diagnosis and Testing
How do I get tested for acute intermittent porphyria?
Your doctor can order testing if you or he/she think you have acute intermittent porphyria. He/she may order testing to look for different substances in your urine, feces, and blood to get the most accurate diagnosis. He/she may also do genetic testing or testing of the function of the HMBS enzyme.
There are multiple tests your doctor can use to diagnose acute intermittent porphyria (AIP). A urine test to look for high levels of porphobilinogen (PBG) is necessary to diagnose an attack of AIP. A genetic test can then be done to confirm the genetic mutation in the HMBS gene causing AIP. For the genetic tests, usually sequencing is done first, which is where the spelling of the gene is read from start to finish. If no genetic changes were found in the sequencing, deletion/duplication analysis is done, which is where the gene is checked for missing or extra pieces.
Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193)