Newborn screening using tandem mass spectrometry identifies certain single-gene disorders by detecting
A) the causative mutation.
B) the wild type gene sequence.
C) an unusual metabolite or metabolic imbalance.
D) abnormal proteins in urine.
E) genome sequences.

Question

Quizplus · Accepted Answer

Newborn screening using tandem mass spectrometry identifies certain single-gene disorders by detecting an unusual metabolite or metabolic imbalance. This is because certain genetic disorders lead to the accumulation or deficiency of specific metabolites, which can be detected through mass spectrometry.

Newborn Screening Using Tandem Mass Spectrometry Identifies Certain Single-Gene Disorders