Cystic Fibrosis - CF Diagnosis (Delta 508 mutation)

Name: Book Cystic Fibrosis - CF Diagnosis (Delta 508 mutation) Online - Price, Purpose & Preparation
Brand: Tata 1mg
SKU: Cystic Fibrosis - CF Diagnosis (Delta 508 mutation)
Price: 6299 INR
Availability: InStock

₹6299~~₹6999~~ 10% Off

You need to provide

Blood

This test is for

Male, Female

Test Preparation

Provide brief clinical history/ doctor's prescription at the time of sample collection.

Understanding Cystic Fibrosis - CF Diagnosis (Delta 508 mutation)

What is Cystic Fibrosis - CF Diagnosis (Delta 508 mutation)?

Cystic Fibrosis (CF) diagnosis (Delta F508 mutation) in this test CFTR (cystic fibrosis transmembrane conductance regulator) gene is tested for permanent change (mutation) in its structure called as Delta F508 mutation.CF is an inherited / genetic disease of the secretory glands which secretes mucus and sweat. It mainly affects the lungs and large intestines. However, it can also affect the liver, sinuses, pancreas, and sex organs.

What is Cystic Fibrosis - CF Diagnosis (Delta 508 mutation) used for?

Performed as a part of a panel of tests to screen for mutations causing Cystic Fibrosis, of which Delta 508 is the commonest
To screen newborns for the Delta 508 mutation
To screen blood relatives of those already diagnosed with cystic fibrosis
To diagnose the condition in adults who show symptoms of cystic fibrosis like excess salt in sweat, increased susceptibility to infections in the respiratory tract, poor growth rate, malnutrition, infertility in males, etc.

Interpreting Cystic Fibrosis - CF Diagnosis (Delta 508 mutation) results

Interpretations

Presence of the Delta 508 mutation in both the copies of the CFTR gene indicates the presence of Cystic Fibrosis disease, while the presence of the mutation in only one copy of the gene indicates that the patient is a carrier of the cystic fibrosis mutation Delta 508.