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.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193)
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Is there newborn testing for acute intermittent porphyria?

Is there are more than one test for acute intermittent porphyria?

Who else in my family should I test for acute intermittent porphyria?

How accurate is the genetic testing for acute intermittent porphyria?

Do I have to have genetic testing to diagnose acute intermittent porphyria?

How can genetic testing for acute intermittent porphyria help?

Can minors (children under age 18) have genetic testing for acute intermittent porphyria?

Is there newborn testing for acute intermittent porphyria?

There is no testing on the newborn screen for acute intermittent porphyria. This is because attacks do not generally occur puberty. Therefore, newborns are not in immediate danger if they have undetected acute intermittent porphyria.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193/)
Is there are more than one test for acute intermittent porphyria?

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 causing AIP in the gene HMBS. 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.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193/)
Who else in my family should I test for acute intermittent porphyria?

If you or a family member has had a genetic testing for acute intermittent porphyria (AIP) and a mutation was found in the HMBS gene, other blood relatives can be tested. Siblings of a person with AIP have a 50% chance of also having AIP. Children of a person with AIP also have a 50% chance of having AIP. Even though someone in the family has AIP, it doesn't always mean that there will be other people in the family who has it as well.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193)
How accurate is the genetic testing for acute intermittent porphyria?

Accuracy of the genetic testing may change based on which laboratory is performing the test. However, the testing generally find 98% of genetic mutations. This means that about 2% of people with changes in the HMBS gene will have a negative genetic test.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193/)
Do I have to have genetic testing to diagnose acute intermittent porphyria?

You do not need a genetic test to diagnose acute intermittent porphyria. Your doctor should be able to diagnose acute intermittent porphyria based on your symptoms and by testing your urine, feces, and blood for molecules or substances that are higher in people having an attack of the disease.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193/)
How can genetic testing for acute intermittent porphyria help?

The main reason people have genetic testing for acute intermittent porphyria (AIP) is to find the cause of their AIP so that other family members can be tested. Also, people who have had an attack of AIP before but have not had another in a long time might want genetic testing to make sure they actually have AIP. This can help them make sure they were correctly diagnosed and can give them more information on the chance of having another attack.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193/)
Can minors (children under age 18) have genetic testing for acute intermittent porphyria?

Even though attacks are rare before puberty, children should be offered testing (with consent of their parents). This gives extra time to learn about the condition and what triggers to avoid as the child grows up, if they have the condition. It also allows fast diagnosis and treatment if an attack does occur. Sometimes, preventative treatment for the attacks can be given.

References
  • Acute Intermittent Porphyria. Gene Reviews. (http://www.ncbi.nlm.nih.gov/books/NBK1193/)

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