Clinical Cystic fibrosis

Cystic fibrosis (CF) is that the most typical, critical, recessively inherited disorder of Caucasian populations process of diagnostics. Genotyping technology has some limitations which  includes the choice of mutations to be tested, and also the clinical context in which the test is administered .These manifestations can all influence how genetic information is It is often challenging in clinical Cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the interpreted. Neonates may have meconium ileus or, rarely, have some other features such as anasarca. Patients diagnosed are more likely to have pancreatic insufficiency when diagnosed later in childhood or in adulthood and often present with chronic cough and sputum production. Approximately 10% of patients with Cystic fibrosis remain pancreatic sufficient; these patients tend to have a milder course.

The importance of communication between clinicians and medical genetic laboratories is highlighted. The results of clinical trials and their implications should be reported in a manner that can be understandable to the clinicians caring for CF patients.

 

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