Cystic Fibrosis (R)F 508/Cftrf508 in Mumbai

Cystic Fibrosis (CF) is a genetic disorder caused by the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene transfers the instructions for producing the CFTR protein that acts as a channel between cell membranes. The primary areas where CFTR protein is most effective are the mucus, saliva, tears, sweat, and digestive enzymes. The negatively charged chloride particles are transferred to and from the cells controlling the movement of water in the tissues. Cystic Fibrosis mostly affects the lungs and the digestive system.

A child can inherit cystic fibrosis if a copy of the CFTR gene is transferred from both parents. If a person inherits the gene mutation from a single parent, they will have a single copy of the mutated gene. These are known as CF carriers and mostly remain asymptomatic. However, those with prominent cases of cystic fibrosis suffer from the following symptoms:

• Intolerance to exercise 
• Recurring lung infections 
• Wheezing 
• Recurring sinusitis 
• Persisting cough with thick mucus production 
• Inflammation in the nasal passages, causing a stuffy nose 
• Greasy stools with a pungent smell 
• Trouble gaining weight 
• Blockage in the intestine of newborns 
• Chronic constipation 
• Poor growth

There have been 700 types of noticeable genetic mutations of the CFTR gene. These can be homozygous or heterozygous, but the delta F508 is the most common mutation type. Also, the homozygous mutation is associated with pancreatic insufficiency. If you, your child, or a member of your family suffers from cystic fibrosis, you may want to get tested. Your doctor may also prescribe the test if you continue suffering from the symptoms mentioned above.

The Cystic Fibrosis (R)F 508/CFTR F508 test helps detect the delta F508 mutation in patients suffering from cystic fibrosis. This class II defect detection helps find most of the problems associated with cystic fibrosis. You can get the test package at an affordable rate from Apollo 24|7.

During the test procedure, a phlebotomist visits you to collect the blood sample. A venipuncture method is utilised for drawing blood from the vein of your arms. This is a painless procedure, with only minute discomfort. Since only a tiny amount of blood is collected, there are no significant side effects. However, a higher amount of blood is required if first-trimester screening is prescribed along with the cystic fibrosis test. Also, you should avoid smoking, drinking, or chewing gum one hour before the sample collection.

The test involves isolating the DNA from the sample for testing the CF mutation type. Enzymes amplify the CFTR gene's various regions via Allele Specific Primer Extension (ASPE). This, along with fluorescence detection, comprises the cystic fibrosis test.

Bidirectional dideoxy sequencing helps identify some mutation types and distinguish the p.F508del mutations from the other types. Apart from the F508D, the different types of polymorphisms include:

• F508C
• I506V
• I507V

The Cystic Fibrosis (R)F 508/CFTR F508 test is an absolute must for pregnant women. Especially when single ethnicities are becoming too hard to distinguish, a CF carrier screen is most recommended. This can help diagnose screen-positive or symptomatic infants as well as preconception couples. Individuals with a family history of cystic fibrosis may also get faster treatment from the diagnosis.