Information and Locations
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. The reliability of the test is greater than 99%.
Who should be tested?
Any individual with
Ashkenazi Jewish (Eastern European) origin has a 1 in 27 risk of being a
carrier and should consider screening
Any individual who has
a family history of FD has an increased risk of being a carrier and should
consider a screening test.
If your partner is a
carrier, then you should be tested.
is prenatal diagnosis done?
If both members of a couple are shown to be carriers by genetic testing,
prenatal diagnosis by amniocentesis (14-17 weeks) or chorionic villus sampling
(10-11 weeks) is possible.
Where is testing
see our list of Genetic Testing
Please see our "Get Tested for
Foundation's designated genetic counseling center is at NYU School of Medicine.
Israelis may receive genetic counseling at Hadassah Medical Center.
Genetic tests are performed only with an individual's consent. Other genetic
tests will not be performed in the absence of consent. However, from a single
blood sample it is possible to test for other conditions that also affect
Ashkenazi Jewish children. These include Tay-Sachs disease, Canavan disease,
cystic fibrosis, Gaucher disease, Bloom's syndrome, Fanconi Anemia A, and Niemann-Pick
To accommodate families interested in prenatal diagnosis and carrier testing, the
Dysautonomia Foundation created the Dysautonomia Genetic Counseling Center. The Dysautonomia Genetic Counseling Center works in conjunction with three Molecular
Diagnostic Reference Laboratories: Mount Sinai Medical Center in New York under the
direction of Dr. Robert Desnick; New York University Medical Center under the direction
of Dr. Harry Ostrer; and at Hadassah-Mt. Scopus in Jerusalem, Israel. Testing is performed only after the interested person has received genetic counseling
to clarify the benefits and limitations.