Cystic fibrosis gene mutation test
What is being analysed in this test?
Cystic fibrosis gene mutation test is a genetic test that examines the DNA for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene provides instructions for making a protein that regulates the movement of salt and water in and out of cells. Mutations in the CFTR gene can lead to cystic fibrosis (CF), a progressive genetic disorder that affects the lungs, pancreas, liver, intestines, and other organs.
What does the result mean?
The result of the test indicates whether there are any mutations present in the CFTR gene. A positive result suggests the presence of one or more mutations associated with cystic fibrosis, while a negative result indicates the absence of these mutations.
When should the test be done?
The analysis can be done at any age, but it is often performed shortly after birth if there is a family history of cystic fibrosis or if the newborn exhibits symptoms of the condition such as chronic respiratory infections, digestive issues, or salty-tasting skin.
What sample is required?
A sample of cells, usually obtained through a blood sample or a cheek swab, is required for the analysis.
Is any prior preparation necessary?
No specific prior preparation is necessary for this test.
What are the normal values?
Normal values for this analysis include the absence of mutations in the CFTR gene. The presence of specific mutations associated with cystic fibrosis may vary depending on the population being tested.
Table of CFTR gene mutations and their clinical significance:
|
Mutation |
Clinical Significance |
|---|---|
|
ΔF508 |
Most common mutation; associated with CF |
|
G542X |
Results in severe CF symptoms |
|
W1282X |
Associated with milder CF symptoms |
|
R117H |
May cause mild or atypical CF symptoms |
|
S1251N |
Variable clinical presentation |
This table provides examples of some CFTR gene mutations and their clinical significance. Please note that this is not an exhaustive list, and the clinical impact of mutations may vary. It is essential to consult with a healthcare professional for interpretation of specific genetic test results.
What does having altered values mean?
Having altered values, such as the presence of one or more mutations in the CFTR gene, indicates an increased risk of developing cystic fibrosis or being a carrier of the condition. This information is crucial for making informed decisions about treatment options, reproductive choices, and family planning.