Cystic fibrosis (CF) is an autosomal recessive disorder characterised by a varied degree of chronic obstructive lung disease and pancreatic enzyme insufficiency. The incidence of CF varies markedly among different populations. Among those of European, Caucasian ancestry, the incidence of the disease ranges from 1/1700 live births to 1/7700 (calculated carrier frequency 1/20 to 1/44), whereas it is extremely rare among Orientals and African blacks.
Investigations:
1. Neonatal Screening - see Newborn Baby Metabolic Screening
2. Sweat Test
3. DNA Gene Testing - SENDAWAY
4. Associated tests - Chymotrypsin and Elastase