In patients suspected of Cystic Fibrosis, which of the following is a common genetic testing approach?

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Identification of CFTR gene mutations is a common genetic testing approach for patients suspected of having Cystic Fibrosis (CF). Cystic Fibrosis is caused by mutations in the CFTR gene, which encodes for a protein that regulates the movement of salt and water in and out of cells. By testing for specific mutations in the CFTR gene, healthcare providers can confirm a diagnosis of CF.

This genetic testing is crucial because it not only helps in the diagnosis but also guides treatment options and provides information for family planning. It is especially important considering that the mutations can vary significantly among individuals, and identifying them can reveal the potential severity of the disease and responsiveness to certain therapies.

Other approaches, such as assessment of pulmonary function tests, chest imaging, and blood cultures, may support the clinical picture or address complications of the disease, but they do not directly identify the genetic basis of Cystic Fibrosis. Therefore, they are not primary methods for diagnosing CF compared to the genetic testing of CFTR mutations.

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