Our screening panel tests for 226 recessive conditions, including over 100 conditions more common among people with Ashkenazi and Sephardic Jewish ancestry. Our panel also includes an additional 12 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.)
6-pyruvoyl-tetrahydropterin-synthase deficiency (PTPS) results in high levels of an amino acid called phenylalanine (hyperphenylalaninemia). Individuals with PTPS
Abetalipoproteinemia is an inherited disorder characterized by the inability to absorb fats and certain vitamins.
Adenosine deaminase (ADA) deficiency is an inherited disorder that leads to severe combined immunodeficiency (SCID), damaging the
Alpha thalassemia is an inherited blood disorder that reduces the body’s ability to carry oxygen to different organs and tissues by affecting hemoglobin, a protein in red blood cells.
Alpha-mannosidosis, a rare inherited disorder, affects multiple organs and tissues in the body. Individuals with this condition
Alport syndrome is a genetic disorder characterized by progressive kidney disease, hearing impairment, and eye abnormalities. Alport
Alstrom syndrome is an inherited condition affecting fat cells and cilia, exhibiting varying severity of symptoms even
Andermann syndrome is an inherited disorder that leads to progressive nervous system damage. Andermann syndrome presents early
Argininemia is classified as one of the urea cycle disorders, where individuals lack the vital enzyme arginase,
