Cystic Fibrosis (CFTR) Intron 9 Poly-T Analysis (5T/7T/9T)

About Test

The Cystic Fibrosis (CFTR) Intron 9 Poly-T Analysis (5T/7T/9T) test is a genetic test used to diagnose cystic fibrosis (CF), a hereditary disease that affects the lungs and digestive system. The test analyzes a specific region (Intron 9) in the CFTR gene to determine the number of thymine (T) nucleotides present in a poly-T repeat sequence. The most common variants are 5T, 7T, and 9T. The presence of certain repeat lengths (such as 5T or 9T) can indicate the presence of CFTR mutations and a high risk of CF.

This test is used to screen newborns for CF as part of newborn screening programs and to diagnose individuals with symptoms consistent with CF. The CFTR Intron 9 Poly-T Analysis test is one of several tests used to diagnose CF, and a positive result should be confirmed with additional genetic testing. It's important to discuss the test and its results with a healthcare provider to understand the implications for a person's health.

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