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Interpreting Results

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Written by
Dr. Shreya Gupta
BDS, MDS - Oral and Maxillofacial Pathology
Reviewed by
Dr. Ashish Ranjan
MBBS, MD (Pharmacology)
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Cystic Fibrosis - CF Diagnosis (Delta 508 mutation)

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

Cystic fibrosis 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 liver, sinuses, pancreas and sex organs. In this test, CFTR (cystic fibrosis transmembrane conductance regulator) gene is tested for permanent change (mutation) in its structure called as Delta 508 mutation.

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

  1. Performed as a part of a panel of tests to screen for mutations causing Cystic Fibrosis, of which Delta 508 is the commonest
  2. To screen newborns for the Delta 508 mutation
  3. To screen blood relatives of those already diagnosed with cystic fibrosis
  4. 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


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.

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