Cystic Fibrosis, Gene sequencing Test

Cystic fibrosis gene sequencing is a blood test that detects approximately 98% of over 1900 disease-causing mutations that have been identified in the CFTR gene. In the classic form cystic fibrosis was the severe autosomal recessive disorder which involved different types of chronic obstructive lung disease and insufficiency in the pancreatic enzyme. The CFTR test is however incapable of detecting large deletion or duplication mutations of genes. There is the small percentage of individuals who after the diagnosis of cystic fibrosis may have mutations such as promoter mutations, deep intronic alterations which are not identified by this method.

The Cystic fibrosis gene sequencing test is the common lgE blood test in which a small amount of blood sample is required for checking whether the patient is facing any duplication or mutations in gene. It is advised that patient should wear half sleeve shirt or easily foldable sleeves shirt on the day of test as blood sample are usually taken from the veins of the elbow. As mentioned above it is the common type of lgE blood test which requires no fasting and patient can carry on with their normal diet on the day of the test. Unless advised by the doctor, no fasting is required for the test.

Cystic fibrosis gene sequencing is used to identify mutations in people with clinical diagnosis of cystic fibrosis and it also helps in analysis of negative targeted mutations during the common mutations. Other use includes the identification of mutations in individuals with atypical presentations of CF. It is helpful in identification of mutations in individuals where detection rates by targeted mutation analysis are low due to their ethnic background. It also identifies the patient who may respond to cystic fibrosis transmembrane conductance regulator potentiator therapy. This test is not considered as the preferred genetic test for carrier screening or initial diagnosis. For these order, CFB, or 106 mutation panel test is used.

A small amount precisely few milliliters will be drawn out from the veins of the patient by the healthcare professional. For small children or infants blood can be drawn from puncturing the skin with the help of a needle. An antiseptic is used first to clean the skin surface. For the veins to swell up an elastic band is placed around the upper arm. A needle is inserted into the vein to draw blood and is collected in a vial or syringe. The sample is carried in the vessel to the laboratory with your name placed over the vessel.