In the United States, most newborns undergo a screening test for up to 60 genetic disorders.A few drops of blood is taken from each baby and the levels of various blood components are determined.The screening identifies babies who might have a genetic disorder, but is not diagnostic.Further testing is required if the screen shows a blood component is out of the normal range.Which of the following technologies could potentially be a low-cost replacement for the current newborn screening and would directly test most babies for the presence of many genetic disorders?
A)PCR to amplify the PKU gene
B)exome sequencing and comparison with known mutations in databases
C)DNA fingerprinting using CODIS SSRs
D)preimplantation genetic diagnosis

Question

Quizplus · Accepted Answer

Exome sequencing and comparison with known mutations in databases can directly test for the presence of many genetic disorders by analyzing the coding regions of genes where most disease-causing mutations occur. This approach can potentially be a low-cost replacement for the current newborn screening as it allows for the identification of a wide range of genetic disorders in a single test.

In the United States, Most Newborns Undergo a Screening Test