This information made possible prenatal diagnosis and carrier genetic testing for people with a family history of FD or whose spouses had a history. As of Spring 2001 General population screening will be available. Testing of individuals without a family history will be available. Thus, the gene product IKAP is not expressed in brain but is expressed in lymphoblasts. This may result in disrupting a phosphorylation site on IKAP and decreasing its effectiveness.
Genetic testing is performed on a small sample of blood from the interested individual.
The DNA is examined with a special probe designed to detect the two known specific mutations. These genetic tests are currently performed only at laboratories that have been designated by the Dysautonomia Foundation. These laboratories, at NYU and Mount Sinai in New York and at Haddassah Medical Center in Jerusalem, have demonstrated their ability to perform these tests with a high-degree of reliability. Testing is performed only after the interested person has received genetic counseling to clarify the benefits and limitations. The Dysautonomia Foundation's designated genetic counseling center is at NYU School of Medicine.