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I've been told that my sister and children have 15q 11.2 microdeletion. Do I need to get a test?

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Amanda_Jayne
Amanda_Jayne Community member Posts: 2 Listener
edited October 2022 in Physical and neurological impairments
Hello, I have just been told that my sister and children have 15q 11.2 microdeletion.  Do I need to get a test ?
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  • ShirleyW
    ShirleyW Community member Posts: 355 Pioneering
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    Amanda_Jayne said:
    Hello, I have just been told that my sister and children have 15q 11.2 microdeletion.  Do I need to get a test ?
    I would suggest that you discuss the matter with your GP.

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  • Alex_Alumni
    Alex_Alumni Scope alumni Posts: 7,562 Disability Gamechanger
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    Hello there @Amanda_Jayne and welcome to the community, thanks for reaching out today :)

    As ShirleyW has mentioned, it's always advisable to discuss these sorts of concerns with your GP, as it's unfortunately not something we have the expertise to help with here on the forum.  

    Just so that I understand fully, do you mean your own children, or your sister's children? And can I ask who let you know about the diagnosis? 

    You are welcome to share your thoughts here of course, and you might like to visit our rare, invisible and undiagnosed conditions category or search for 'microdeletion' using the magnifying glass button, to see if any other members have experienced something similar.

    Let us know if we can help with anything further, and we'll do what we can to help out.

    Alex
    Online Community Coordinator
    Scope

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  • Amanda_Jayne
    Amanda_Jayne Community member Posts: 2 Listener
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    Hi Alex_Scope 
    My sister has it and so do her children.  My sister was told by the doctor to let me know. 
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  • Alex_Alumni
    Alex_Alumni Scope alumni Posts: 7,562 Disability Gamechanger
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    Thanks for explaining @Amanda_Jayne that's really helpful :) I'm glad your sister has been able to let you know. 

    Have you managed to have a chat with the doctor about it all? 
    Online Community Coordinator
    Scope

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  • OverlyAnxious
    OverlyAnxious Community member Posts: 2,696 Disability Gamechanger
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    I don't think you need to get a test if you don't want to, it's your choice. 

    It is something that could be useful to know, especially if you have any health conditions that could have been caused by it.  It's also something that could affect your own children if you have any or intend to in future.
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  • L_Volunteer
    L_Volunteer Community Volunteer Adviser, Scope Member Posts: 7,983 Disability Gamechanger
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    Thanks for sharing this with us @OverlyAnxious. I am sure your response will be really insightful and helpful.

    How are you at the moment? I hope you are well but please don't hesitate to let us know if we can do anything to help  :)
    Community Volunteer Adviser with professional knowledge of education, special educational needs and disabilities and EHCP's. Pronouns: She/her. 

    Please note: if I use the online community outside of its hours of administration, I am doing so in a personal capacity only.
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