Types of Genetic Disorders

Our screening panel tests for 260 recessive conditions, including 81 conditions more common among people with Ashkenazi and Sephardic Jewish ancestry. Our panel also includes an additional 21 X-linked conditions for women, including Fragile X syndrome. You can learn more about each of the conditions on the panel by browsing or searching the database below. If you have any questions, you can learn more about our carrier screening program or contact us at geneticscreening@juf.org or 312-357-4718 to speak to a genetic counselor. (Please note: this database is a work in progress and you might not find all conditions at this time.)


Abetalipoproteinemia is an inherited disorder characterized by the inability to absorb fats and certain vitamins.

Citrullinemia type 1

Citrullinemia type 1 is an inherited disorder that is characterized by an accumulation of ammonia in the blood stream.

Mucolipidosis type IV

Mucolipidosis type IV is an inherited metabolic disorder characterized by delayed development and vision impairment that tends to worsen

Spastic Paraplegia Type 49

Spastic paraplegia type 49 is an inherited genetic disorder characterized by progressive muscle stiffness (spasticity) along with the development

Go to Top