biochemical genetic test

biochemical genetic test

The analysis of biomolecules in serum or tissue—e.g., proteins and certain metabolites—to detect inborn errors of metabolism, genotype, or mutations for clinical purposes—e.g., to predict risk of disease, identify carriers, and establish prenatal or clinical diagnoses or prognoses.
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The GTS's definition for biochemical genetic tests is the analysis of materials derived from the human body, including human proteins, and certain metabolites predominantly used to detect inborn errors of metabolism, heritable genotypes, or mutations for clinical purposes.