cystic Fibrosis is caused by a mutation in the transmembrane conductance regulator CFTR gene, which leads to the deficiency or complete deficiency of the said transmembrane protein.
Clinically, mucus thickening and congestion develops in the lungs, ducts of the pancreas and other organs, which proceeds with recurrent inflammatory processes.
Mutations in the CFTR gene are inherited in an autosomal recessive manner, which means that the disease requires the mutated genes from both parents.
It's Advent – Cystic Fibrosis – The focus panel examines the CFTR gene for deletions and duplications.
It's Advent - Cystic fibrosis - the focus panel determines whether a phenotypically healthy person is a carrier of the mutated gene for the disease.
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