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.)

Wilson Disease

Wilson Disease is an inherited disorder that causes copper to accumulate in body tissues, especially in the liver, brain, and eyes.

Pompe Disease

Pompe disease is a metabolic disorder that prevents the body from properly breaking down glycogen, a substance that helps provide the body with energy.

ABCC8-Related Conditions

ABCC8-related conditions include familial hyperinsulinism (FHI), permanent neonatal diabetes mellitus, and maturity- onset diabetes of the young.

Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is a condition that causes progressive weakness and wasting (atrophy) in the skeletal muscles, which are used for movement.

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