Description

Cystic Fibrosis (CF) is the most common autosomal recessive genetic disease in the Caucasian population appearing in approximately one in every 2,500 newborns. Sequencing of CFTR is carried out by common mutations followed by bi-directional Sanger sequencing. The sensitivity of full gene sequencing is estimated to be approximately 99% for single nucleotide substitutions and small insertions/deletions.

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Polymerase chain reaction (PCR)

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