Notice: Users may be experiencing issues with displaying some pages on stanfordhealthcare.org. We are working closely with our technical teams to resolve the issue as quickly as possible. Thank you for your patience.
Another way to look at gene products, rather than the gene itself, is through protein truncation studies. Testing involves looking at the protein a gene makes to see if it is shorter than normal. Sometimes a mutation in a gene causes it to make a protein that is truncated (shortened).
With the protein truncation test, it is possible to "measure" the length of the protein the gene is making to see if it is the right size or shortened. Protein truncation studies can be performed on a blood sample. These types of studies are often performed for disorders in which the known mutations predominantly lead to shortened proteins.