Cystic Fibrosis Community
50 Members
Avatar universal

Cystic Fibrosis diagnosis-Delta 508 mutation

Hello, I am from Bangladesh. My son's age is about 7 months. We are consanguineous parents. As per X-ray report, his left lungs is collapsed. He already suffered from pneumonia twice in his 7 months. As per doctor's advice, we conduct the following diagnosis from India:
Test:            Mutation analysis for common Cystic Fibrosis Mutation Delta F508
Result:         Negative for cystic Fibrosis Mutation Delta F508
Interpretation: The results indicate that the proband does not harbor the common mutation that is found in only 30-40% of patients in India. Rest of the patients have other mutations.
Recommendation: CFTR gene sequencing, If clinical diagnosis is firm, or sweat chloride are raised.
Genetic Counseling is advised.
Can anybody explain, what does the report says? Is my son a cystic fibrosis patient/ carrier. Mentionable that we did not go for sweat chloride test and we parents never conduct the test for CF.
0 Responses
Have an Answer?
Didn't find the answer you were looking for?
Ask a question
Popular Resources
Find out what causes asthma, and how to take control of your symptoms.
Healing home remedies for common ailments
Tricks to help you quit for good.
Is your area one of the dirtiest-air cities in the nation?
A list of national and international resources and hotlines to help connect you to needed health and medical services.
Here’s how your baby’s growing in your body each week.