Much has evolved in the last 5-10 years and genetic testing is now available both clinically and on a research basis. A huge benefit to having genetic testing is that it can now help both doctors and patients to be sure that people are managed correctly and that the diagnosis is correct. This is great because PS is so difficult to diagnose and most doctors have never seen a patient with true PS. 

​While the testing is available clinically (from your geneticist), it can also be done through part of the ongoing research study at NIH which is usually free or very low cost. Please contact the PSF for more information.

Please note: to apply for funds from the PSF we will need a copy of a genetic test result confirming an AKT1 gene change.  If you do  not have the documentation you can ask your geneticist for clinical testing and/or you can contact the research study at NIH.