Molecular Test Detection

Cystic Fibrosis DNA detection

Dr. Simi Paknikar
Medically Reviewed by Dr. Simi Paknikar, MD
Last Updated on May 06, 2014
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Test : Cystic Fibrosis DNA detection

Indications : Disease causing mutations in the CFTR gene causes cystic fibrosis. A person needs to have two copies of the mutated CFTR gene, one from each parent, to be affected by the disease. A person with just a single copy of the CFTR gene is called a "carrier". The chances of being a carrier are dependent on race and ethnicity of a person.

Although the sweat test is the gold standard for detecting CF, genetic tests are employed to -

Confirm CF diagnosis
To determine carrier status in a person, to help in planning for a child.In some places this test is advised for all those considering a child.
To determine the status in a fetus (prenatal testing)
Blood is drawn for the individual and the DNA is analyzed for the presence of mutations in the CFTR gene using standardized technology. CFTR full-gene sequence analysis is carried out on a next-generation sequencing instrument.

Physiology : Cystic fibrosis (CF) is a genetic condition that makes the body produce thick and sticky mucus. The tissues of the lungs and pancreas get clogged with this sticky mucus and get damaged with time. Mutations in the CFTR gene are responsible for the condition.

The disease affects both men and women. In people with this condition the digestive enzymes from the pancreas and bile duct go not reach the site of digestion, and this affects the breakdown of food. In men, CF could also lead to infertility.

Cystic fibrosis symptoms include salt-tasting skin, frequent lung infections, persistent cough and wheezing, large appetite but inadequate weight, constipation or abnormal bowel movements. The prognosis for CF has improved over time and many people live beyond the age of 40 years.

Interpretation : A "positive" result for the genetic test indicates that there is mutation in the CFTR gene and that the person is either afflicted by or is a carrier of CF. This test is 99% accurate.

A negative test means that a mutation in the CFTR gene is not detected. However, this result is not a specific indication of a negative status.

Sample : Laboratory generally provides an interpretive report.

Test Method : DNA hybridization

Related Tests : Whole blood, amniotic fluid, chorionic villus



References : +



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