thread: Screening tests for genetic diseases - recommendations?

  1. #1
    BellyBelly Life Subscriber

    Jun 2008
    In snuggle land
    4,499

    Screening tests for genetic diseases - recommendations?

    I'm off to the doctor today & will be asking for blood tests to check for carrier status of thalasemia (sp) & Tay-Sachs. I've already tested negative as a carrier for cystic fibrosis & Fragile X. Are there other standard genetic disease tests I can get while I'm at it?

    I realise they are expensive & my risk is low, but with our history, I'd rather rule these things out now than deal with yet another fatal baby illness.

  2. #2
    Registered User

    Oct 2006
    In a house, on a hill with a big fat welcome mat!
    6,772

    I am not sure of any others. Goodluck x

  3. #3
    Registered User

    Oct 2007
    Middle Victoria
    8,924

    Are you of Jewish descent? The Tay Sachs program in Victoria that focusses on people of Jewish descent has a panel of conditions that they test for. This is also a more economical way of testing than doing them individually. This testing is also done from a mouth swab rather than a blood test.

  4. #4
    BellyBelly Life Subscriber

    Jun 2008
    In snuggle land
    4,499

    Thanks for that HotI. As far as I know, I'm not of Jewish descent but I am paranoid. I also have a friend who tested positive as a carrier for thalaseamia even though her known ancestry wouldnt suggest she was a carrier.

    The mouth swab looks interesting and less expensive but I think I'd need to arrange via an OB.

  5. #5
    Registered User

    Nov 2008
    in the ning nang nong
    12,163

    Not sure, but I was tested for thalasemia (I don't know how to spell it either...) and even though I tested negative, my Ob has now also said that DH needs to be tested for thalasemia too ...

    So maybe also find out what things your man should be getting screened for?

    Doesn't answer your question, sorry, but I thought I'd put my out-of-the-box two cents in too ...