What does biochemical testing primarily analyze in genetic testing?

What does biochemical testing primarily analyze in genetic testing?

• A. Protein concentrations
• B. Gene sequence variations
• C. Chromosomal aberrations
• D. Enzyme activities

Answer: (D)

Biochemical testing primarily focuses on analyzing enzyme activities. This type of testing is crucial in identifying metabolic disorders that arise from enzyme deficiencies or malfunctions. Enzymes are proteins that catalyze biochemical reactions, and their activity levels can offer insight into underlying genetic conditions. In particular, measuring enzyme activities helps in diagnosing conditions such as phenylketonuria (PKU), where a deficiency in phenylalanine hydroxylase leads to accumulation of phenylalanine. By determining whether specific enzymes are functioning normally, healthcare providers can ascertain whether a metabolic pathway is disrupted, which is often the result of genetic mutations affecting enzyme production or function. While analyzing protein concentrations, gene sequences, or chromosomal structures can provide valuable information, these methods typically do not directly measure the functional capacity of the biochemical pathways, which is what enzyme activity testing achieves. Thus, the emphasis on enzyme activities in biochemical testing makes it a key technique in understanding genetic disorders related to metabolic processes.

Biochemical testing primarily focuses on analyzing enzyme activities. This type of testing is crucial in identifying metabolic disorders that arise from enzyme deficiencies or malfunctions. Enzymes are proteins that catalyze biochemical reactions, and their activity levels can offer insight into underlying genetic conditions.

In particular, measuring enzyme activities helps in diagnosing conditions such as phenylketonuria (PKU), where a deficiency in phenylalanine hydroxylase leads to accumulation of phenylalanine. By determining whether specific enzymes are functioning normally, healthcare providers can ascertain whether a metabolic pathway is disrupted, which is often the result of genetic mutations affecting enzyme production or function.

While analyzing protein concentrations, gene sequences, or chromosomal structures can provide valuable information, these methods typically do not directly measure the functional capacity of the biochemical pathways, which is what enzyme activity testing achieves. Thus, the emphasis on enzyme activities in biochemical testing makes it a key technique in understanding genetic disorders related to metabolic processes.