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Thread: Welcome Ambry Genetics

  1. #1071
    Junior Member
    Join Date
    Mar 2014
    Posts
    16
    I can't add much, but great post.

  2. #1072
    Junior Member
    Join Date
    Mar 2018
    Posts
    3
    STEVEN AMBRY


    Question on L183i also known as the c.547C>A - Cystic Fibrosis mutation

    Hello Steven

    Very recently my daughter who will be 8 years of age in June was diagnosed with Cystic Fibrosis at Boston Children Hospital based on the following

    1. Sweat test result 62 mmol/L
    2. Mild respiratory symptoms

    Subsequent to this the doctor ordered a Genetic testing and the result came back as her having a Variant of unknown significance on one of the genes – The other gene had no mutation. the variant identified was p.L183I also known as the c.547C>A. This was very interesting because the mutation was only on one gene and nothing on the other

    Apart from the mild respiratory problems my daughter seems to be very healthy – she has a very good height to weight ratio 4 feet 2 inches and a weight of 27.6 kg – also her stool Elastase test came out to be a bit low but not low to require enzymes

    As we continue to investigate this further, is any one on this forum aware of this mutation?


    The doctor has called for a repeat sweat test on 04/05 for my daughter – it would be nice to hear your thoughts on my questions

    Thanks in advance
    Last edited by CFDAD2018; 03-20-2018 at 10:31 PM.

  3. #1073
    My daughter was diagnosed with FQ at 9 weeks, still waiting for the hospital tests and I am very distressed

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