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.)
Corticosterone Methyloxidase Deficiency
Corticosterone methyloxidase deficiency is a disorder characterized by the kidneys' inability to effectively absorb salt. Corticosterone methyloxidase
Congenital Insensitivity to Pain with Anhidrosis
Congenital insensitivity to pain with anhidrosis (CIPA) is an inherited condition characterized by an absence of pain
Congenital Disorder of Glycosylation – MPI-Related
Congenital disorder of glycosylation (CDG) MPI-related is an inherited metabolic condition that disrupts the production of glycoproteins
Congenital Disorder of Glycosylation Type Ic
Congenital disorders of glycosylation (CDG) encompass a group of conditions affecting glycosylation, a critical process diversifying protein
Congenital Amegakaryocytic Thrombocytopenia
Congenital amegakaryocytic thrombocytopenia (CAMT) is a disorder characterized by reduced platelet levels and the absence or reduction
Congenital Adrenal Hyperplasia (CYP21A2-Related)
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands, which regulate hormone
Combined Pituitary Hormone Deficiency (PROP1-Related)
Combined pituitary hormone deficiency (CPHD), specifically PROP1-related CPHD, is an inherited condition that leads to hormone shortages
Alport syndrome
Alport syndrome is a genetic disorder characterized by progressive kidney disease, hearing impairment, and eye abnormalities. Alport
Cohen syndrome
Cohen syndrome is an inherited disorder impacting motor skills, mental development, and behavior. Infants with this condition
