Category: Genetic Disease Carrier Screening

What is Pompe disease? Pompe disease is a genetic condition characterized by the accumulation of glycogen (a complex carbohydrate) in the cells.

Fragile X Syndrome Fragile X Syndrome is an inherited disorder that is the most common cause of intellectual disability.

Canavan disease is a rare genetic leukodystrophic neurodegenerative disorder that affects the white matter of the brain and spinal cord. 

Niemann-Pick disease is a genetic, autosomal recessive disorder that disrupts the breakdown of cholesterol and other lipids in cells.

Gaucher disease is a genetic disorder that causes bone pain, anemia, organ enlargement, and bleeding. Three types of the disease

Fanconi anemia is a rare genetic disease that affects the bone marrow and other organs. People with Fanconi anemia

Familial hypercholesterolemia is an autosomal dominant disorder characterized by impaired low-density lipoprotein metabolism. The disease develops in low-density lipoproteins.

Muscular dystrophies are a group of genetic diseases characterized by loss of muscle mass and progressive weakness. Both