Major mutations of the CFTR gene
We offer an extensive search for common mutations in the CFTR gene (30 variants).
Search for common mutations in the CFTR gene
Mutations of the CFTR gene
Mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene are the cause of a hereditary disease — cystic fibrosis , and can also lead to other clinical manifestations, including obstructive infertility in men (CBAVD), chronic sinusitis, pancreatitis, and lung function disorders.
This test is aimed at searching for the most common (major) mutations of the gene CFTR , which are found in different ethnic groups.
More than 30 pathogenic variants , including the most common:
- F508del
- CFTRdele2,3
- 2184insA
- G542X
- W1282X
- N1303K
- and others.
How to take the test
You can take the test at our collection point at:
Tashkent, 1st Rakatboshi passage, 17
Blood collection takes no more than 10 minutes. Results are available online or in print.
Major mutations of the CFTR gene in the Genscreen Laboratory
International experience
Experts with years of practice in genetics, laboratory diagnostics and bioinformatics.
Confidentiality guarantee
We strictly follow the privacy policy: information is not shared with third parties without consent.
Personal consultation
Online consultation is available to explain results after the study.
Reliability and control
Every research stage is under strict supervision and multiple checks.
Technological leadership
Modern equipment and international diagnostic standards.
Transparent pricing
Clear costs without hidden fees, with the option to choose the most suitable test.