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.)
Niemann-Pick Disease Types A and B
Niemann-Pick disease types A and B are inherited disorders that can affect many different body systems. Symptoms can include
Niemann-Pick Disease Type C (NPC2-related)
Niemann-Pick disease type C (NPC2-related) is a lysosomal (digestive system of the cell) storage disorder that prevents the body from properly transporting cholesterol and other fatty substances (lipids) inside of cells.
Niemann-Pick Disease Type C (NPC1-related)
Niemann-Pick disease type C (NPC1-related) is a lysosomal (digestive system of the cell) storage disorder that prevents the body from properly transporting cholesterol and other fatty substances (lipids) inside of cells.
Fumarate Hydratase Deficiency
Fumarate hydratase deficiency is an inherited disorder that causes an alteration of the brain structure.
USH2A-Related Disorders
USH2A-related disorders are a group of inherited conditions that are associated with progressive vision loss in adolescence or early adulthood with or without hearing loss from birth.
Bardet-Biedl Syndrome (BBS2-related)
Bardet-Biedl syndrome (BBS2-related) is an inherited disorder that affects many different parts of the body.
Familial Chylomicronemia Syndrome
Familial chylomicronemia syndrome is a metabolic disorder that causes deficiencies in enzymes, which help break down certain fats for energy.
Nonsyndromic Deafness (LOXHD1-related)
Nonsyndromic deafness (LOXHD1-related) is an inherited disorder that causes a partial or total loss of hearing that is not associated with any other symptoms.
Methylmalonic Acidemia (MMBB-related)
Methylmalonic acidemia is an inherited metabolic disorder in which the body cannot process certain proteins and fats properly, leading to a buildup of toxic substances in the body and metabolic crises.
