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What is a cystic fibrosis karyotype?
What kind of mutations does it look for?
The test looks for mutations in the CFTR gene, which is responsible for producing a protein that regulates the movement of salt and water in and out of cells. Mutations in this gene can cause the build-up of thick, sticky mucus in the lungs and other organs, leading to breathing difficulties, infections, and other symptoms associated with cystic fibrosis.