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.)

Familial Dysautonomia

Familial dysautonomia is a disorder that causes that causes the body’s nerve cells to deteriorate, affecting involuntary actions like breathing, tear production, blood pressure, and body temperature.

Canavan Disease

Canavan disease is a progressive neurological disorder that destroys the myelin sheath, which insulates nerve cells in the brain.

Fragile X Syndrome (FXS)

Fragile X syndrome (FXS) is an inherited condition that causes varying degrees of intellectual disability, autism, and developmental and behavioral problems.

Congenital Nephrotic Syndrome Type 2

Congenital nephrotic syndrome type 2 is an inherited condition where the kidneys are unable to filter waste products from the blood correctly, which causes the kidneys to leak excess protein into the urine.

Beta Thalassemia

Beta 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.

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