CFTR Full gene sequencing

CFTR full gene sequencing reads the whole CFTR gene to look for variants that cause cystic fibrosis or related conditions, including rare ones that targeted tests can miss.

What the test looks for

The CFTR gene makes a channel that moves salt and water in and out of cells in the lungs, pancreas, gut and other organs. More than a thousand different variants have been described. Targeted tests, such as F508del screening, look only for the most common ones. Full gene sequencing, done here with next-generation sequencing (NGS), reads the coding regions of the whole gene.

Who might consider it

• People whose doctor suspects cystic fibrosis or a CFTR-related condition, especially when targeted tests were negative
• Relatives of someone with cystic fibrosis whose variants are not yet known
• Partners of a known carrier who want the most complete carrier check
• Men being investigated for certain types of male infertility, at their doctor’s request

Before you book

The test uses one blood sample. Our team can collect it at your home or office anywhere in Dubai, or you can visit our lab in Al Karama or Al Barsha 1. The lab asks for a signed consent form and your relevant medical history with the sample, as it does for all genetic tests. Results are usually ready in 6–7 weeks.

Understanding your results

The report lists any CFTR variants found and how they are classified: harmful (pathogenic), possibly harmful, of uncertain significance, or not found. One harmful variant usually means you are a carrier; two can mean cystic fibrosis or a related condition, depending on the variants. Because results can be complex and affect relatives, discuss them with a doctor or genetic counsellor.