IRT levels newborn screening
- Thread starter Rstone
- Start date
From the way that our Dr explained it, in California they do the IRT twice and when it's elevated it goes straight to screening for the "California 40"--the 40 most common mutations in California. If it detects one of them, it then goes to full DNA sequencing which then sometimes brings stuff "they've never even seen before"--in our case it detected the i1366T-an unknown sequence change that has been documented once in an asymptomatic carrier. Do you know if they went beyond your state's most common mutations?
No, they just tested the most common 40. We had a sweat test yesterday but haven't heard the results yet. My oldest had a negative newborn screen and negative sweat tests but has a lot of respiratory issues so she had a DNA panel done. Still waiting on results. Does your baby have any symptoms? Mine is 5 months and coughs some but nothing else. Thank you for your help!
My baby has no symptoms, but she's only 4.5 weeks old. Good luck, you're not in this alone!
