How many cystic fibrosis (CF) multiple mutations have been observed?

Prepare for the AAB Molecular Diagnostics Test with focused study materials and practice questions. Gain insights into questions, formats, and key topics to excel in your exam and advance your career in molecular diagnostics.

Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene. Research has identified a significant number of such mutations, which play a crucial role in diagnosing and managing the disease. The correct answer indicates that there are over 1300 known mutations associated with cystic fibrosis. This extensive mutation spectrum reflects the genetic diversity seen in different populations and helps medical professionals understand the disease's variability, providing insights into tailored treatment options. The ongoing discovery of new mutations continues to expand the understanding of CF, emphasizing the importance of genetic testing in clinical settings.

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