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.)

Methylmalonic Acidemia (MMAA-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.

Primary Ciliary Dyskinesia

Primary ciliary dyskinesia is an inherited genetic condition that causes abnormal cilia and flagella on cells, which prevents the clearance of mucous from the lungs, sinuses, and middle ears.

Bloom Syndrome

Bloom syndrome is an inherited genetic disorder that causes short stature, skin rash and an increased risk of cancer.

Glycogen Storage Disease Type IV

Glycogen storage disease type IV is an inherited glycogen storage disorder caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, or other tissues.

Dihydrolipoamide Dehydrogenase Deficiency

Dihydrolipoamide dehydrogenase deficiency is an inherited metabolic condition that is most often characterized by early-onset lactic acidosis (excess lactic acid in the body) and delayed development.

Nemaline Myopathy 2

Nemaline myopathy 2 is an inherited skeletal muscle disorder that causes severe muscle weakness, hypotonia, and reduced or absent reflexes.

Fanconi Anemia Type C

Fanconi anemia type C is an inherited condition in which the body cannot properly produce a protein that protects the DNA from damage.

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