Cystic Fibrosis
Cystic Fibrosis (CF) is the most common lethal inherited disease in white persons. It is a life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America and Australia.
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Cystic Fibrosis (CF) is the most common lethal inherited disease in white persons. It is a life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America and Australia. The disease is caused by mutation of a gene that encodes a chloride-conducting transmembrane channel that regulates anion transport and mucociliary clearance in the airways and other exocrine glands. This leads to an exocrine gland dysfunction that involves multiple organ systems resulting in chronic respiratory infections, pancreatic enzyme insufficiency, infertility and associated complications in untreated patients. End-stage lung disease is the principal cause of death. Most of the carriers of the CF gene are asymptomatic, therefore the importance of prenatal diagnosis as well as parent screening can identify those patients at risk of transmitting the mutation to their offspring.
The Igenomix Cystic Fibrosis Precision Panel can be used as a diagnostic and screening tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes.
The Igenomix Cystic Fibrosis Precision Panel is indicated in those cases where there is a clinical suspicion of CF or family history of CF with or without the following manifestations:
The clinical utility of this panel is:
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