acute intermittent porpyhria

hi there i was diagnosed with aip 8 years ago when pregnant and i have recently had tests carried out under a specialist who tells me they cant find anything in the urine tests !!! i have had numerous attacks, my gp was very unprofessional and took the porphyria off my records and has now returned it to my notes after finding inital diagnosis is this normal that they cant find what they looking for in the urine ?? they recommended waiting until i was having an attack and testing again?? i so confused with this whole drama

[Jordanna Joaquina, MS, CGC]

We recommend that you meet with a medical geneticist for evaluation. A medical geneticist can review your personal and family history as well as discuss the benefits and limitations of genetic testing for acute intermittent porpyhria (AIP). The only gene currently known to cause AIP is the HMBS gene. Genetic testing of the HMBS gene detects more than 98% of affected individuals and can confirm a clinical diagnosis of AIP. This testing is available in clinical laboratories. You can find a medical geneticist at the American College of Medical Genetics website. We wish you the best.