genetic testing and counseling at the Victor Center

Preventable Jewish Genetic Diseases


It is possible to be a carrier of the gene without having the genetic disease. However, two parents who are carriers for the same condition have the potential to pass a Ashkenazi Jewish genetic disease to their children. The Victor Center at Nicklaus Children's Hospital offers genetic screening and counseling to help carriers with their reproductive options.

19 Disease Panel*
Name Carrier
Name Carrier Frequency
Gaucher Disease 1 in 15 Niemann-Pick Disease 1 in 90
Tay-Sachs Disease (Enzyme) 1 in 25 Joubert Syndrome 1 in 92
Cystic Fibrosis § 1 in 26 Dihydrolipoamide Dehydrogenase Deficiency (DLD) 1 in 96
Familial Dysautonomia 1 in 30 Bloom Syndrome 1 in 100
Spinal Muscular Atrophy § 1 in 41 Usher syndrome type III 1 in 107
Cavanan Disease 1 in 55 Walker Warburg syndrome 1 in 112
Familial Hyperinsulinism 1 in 66 Mucolipidosis Type IV 1 in 122
Glycogen Storage Disease Type 1A 1 in 71 Usher syndrome 1F 1 in 141
Maple Syrup Urine Disease 1 in 81 Nemaline Myopathy 1 in 149
Fanconi Anemia 1 in 89 Fragile X Syndrome ^ §  
*Expanded Carrier panels available depending on insurance coverage
^Optional for females, for this X-linked disease, the female carrier frequency is presented
§Carrier frequency in Ashkenazi Jews same as in the general Caucasian population

19 Preventable Jewish Genetic Diseases

Learn about 19 of these preventable Jewish genetic diseases from the list of genetic disorders below and any disease which may be updated to the panel:

1. Bloom Syndrome


2. Canavan Disease


3. Cystic Fibrosis


4. Dihydrolipoamide Dehydrogenase Deficiency (DLD)


5. Familial Dysautonomia


6. Familial Hyperinsulinism


7. Fanconi Anemia Type C


8. Gaucher Disease Type 1


9. Glycogen Storage Disease, Type 1a


10. Joubert Syndrome


11. Maple Syrup Urine Disease


12. Mucolipidosis IV (ML4)


13. Nemaline Myopathy


14. Niemann-Pick Disease Type A


15. Spinal Muscular Atrophy (SMA)

A group of Jewish genetic diseases affecting the motor neurons of the spinal cord and brain stem. Individuals affected by spinal muscular atrophy have progressive muscle degeneration and weakness, eventually leading to death. (1 in 41)

16. Tay-Sachs Disease


17. Usher Syndrome Type 1F


18. Usher Syndrome Type III


19. Walker-Warburg Syndrome

Contact The Victor Center

Autosomal Recessive Inheritance
If both parents are carriers of a mutation in the same disease gene, there is 25% chance with each pregnancy of having a child who is a carrier for the same disease. If both parents are carriers of a mutation in different disease genes, the child could be a carrier for either disease or both, but it is not likely to be affected with either disease.

About the Victor Center

The Einstein Victor Center for the Prevention of Jewish Genetic Diseases is a thought leader in the prevention of Jewish genetic diseases. Science-based and mission driven, the Einstein Victor Center leverages advances in genetic technology to identify carriers for severe and often fatal childhood diseases.