Acute intermittent porphyria
If I have two mutations in the HMBS gene do I have acute intermittent porphyria?
Some genetic tests specifically look at what are called SNPs (single nucleotide polymorphisms) in the HMBS gene. SNPs are the most common type of genetic variation among people. Each SNP represents a single DNA building block (nucleotide). Most SNPs do not have an effect on the health or development of the individual. However, they can sometimes help determine someone's response to certain drugs or their risk of developing particular diseases.
A genetic counselor can help with ordering further diagnostic testing and determine which labs in the U.S. conduct testing for porphyria would be best in your situation if testing is appropriate. (Take a look at "Find a Genetic Counselor" in your area http://nsgc.org/p/cm/ld/fid=164).
There is also an excellent organization called the American Porphyria Foundation that has some great resources for people with various types of porphyria. They may be able to assist in determining different potential triggers or how other people avoid them.
Ask a ThinkGenetic Counselor, September 19, 2016