CFTR gene

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:

 

Characteristics of the sample to be sent:

The test is performed with NGS in 7 working days from receipt of the sample.