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Clinical and Metabolic Genetics
Clinical and Metabolic Genetics

Testing and conditions

The following diseases are currently screened

Metabolic conditions

Genetic metabolic diseases are caused by genetic defects that result in missing or improperly constructed enzymes necessary for some step in the metabolic process of the cell. When the body is not able to metabolize certain substances in food like fats, proteins, sugars, they can accumulate in the body and cause serious health problems.

Endocrine conditions

The endocrine system, which is responsible for producing hormones, can sometimes produce too much or too little of some hormones, leading to illness or developmental disabilities.

Hemoglobinopathies

A red blood cell disease characterized by presence of fetal hemoglobin (F) and hemoglobin S in the absence of hemoglobin A. If hemoglobin is not formed or not working properly, red blood cells break down, leading to health problems including severe anemia and serious infections.