Testing for hereditary metabolic disorders identifies IEMs and enzyme disorders. Included are amino acids, carbohydrates, cholesterol, cofactors and vitamins, lysosomal shortage, lactic acids, fatty acids, carnitines, organic acids, porphyrins, purines and pyrimidine, and urea.

Molecular genetics includes the diagnosis of neoplastic disorders (e.g., Philadelphia chromosome and neuroblastoma) and the carrier identification and prenatal diagnosis of various inherited disorders (e.g., thalassemia, cystic fibrosis, hemophilia A). In general, it is the mature protein product of a gene that carries out its function.