You learn that a client with type I osteogenesis imperfecta (OI) has no other family members with the disorder. Which type of genetic testing should you prepare the client to have completed?

Question

Quizplus · Accepted Answer

Individuals who have inherited the disease through mutation must undergo
DNA analysis to confirm the diagnosis. This is because these mutations actually code for the N-terminus of the helical region and do not result in the overmodified collagen, making it extremely difficult to pick up on gel electrophoresis. Instead, DNA sequencing must be implemented, requiring approximately 10,000 bases in each of the two genes. The process usually requires 100 polymerase chain reactions (PCRs), followed by an extensive screening for mutated strands. Testing for sporadic mutation of OI is not completed through biochemical analysis, chromosomal analysis, or the FISH process.

You Learn That a Client with Type I Osteogenesis Imperfecta