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.)
Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis is an inherited disorder characterized by abnormal storage of fats in many areas of the body.
Limb-girdle muscular dystrophy type 2D
Limb-girdle muscular dystrophy type 2D is an inherited disorder that causes weakness of the arm and leg muscles.
Abetalipoproteinemia
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
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder characterized by defects in the protein collagen.
Spastic Paraplegia Type 49
Spastic paraplegia type 49 is an inherited genetic disorder characterized by progressive muscle stiffness (spasticity) along with the development
Muscular Dystrophy-Dystroglycanopathy (FKRP-related)
Muscular dystrophy-dystroglycanopathy is an inherited disorder that causes breakdown in muscles used in movement as well as muscles in
Dystrophic Epidermolysis Bullosa
Dystrophic epidermolysis bullosa is an inherited disorder affecting the skin and causing it to break down. Symptoms include the skin
