Cystic fibrosis is an inherited genetic disease and transmissible characterized by sweating high in salts and highly viscous mucus. It is the most common genetic disorder among Caucasian children. It is a monogenic disease, autosomal recessive, caused by mutations in the CFTR gene (chromosome 7). They have been described over 1900 mutations. There are various levels of molecular analysis:
- the level of analysis which includes the search for the most frequent mutations of the gene. The test is offered to family members of people living with increased risk of heterozygosity, couples trying to become pregnant with assisted reproductive technology and, sometimes, a couple of the general population, especially those expecting a child;
- analysis II level which provides the sequencing of all exons and the adjacent regions, with a detection rate better.
Characteristics of the sample to be sent:
- Two EDTA tubes 6 ml of peripheral blood.
The test is performed with NGS in 7 working days from receipt of the sample.