Cystic fibrosis in a Sri Lankan infant, confirmed by genotyping: implications for future diagnosis and service provision

Cystic fibrosis (CF) is an autosomal recessive condition caused by a mutation in the cystic fibrosis transmembrane regulator gene (CFTR) on chromosome 7(7q31.2). The diagnosis is usually made clinically, supported by raised sweat chloride, although genotyping provides definitive confirmation and enables genetic counselling.

Journal of the Postgraduate Institute of Medicine 2015;2:E17:1-3