Order a Diagnostic Test

As part of our commitment to early diagnosis of patients, Sanofi Genzyme supports the use of a Dried Blood Spot (DBS) assay for the initial screening of these lysosomal storage disorders:

  • Fabry disease
  • Pompe disease
  • Gaucher disease
  • ASMD (Niemann Pick Type A/B)
  • MPS I & MPS II

Tests can be arranged in one of the following ways:

    • Via local pathology provider - select your preferred provider and complete the requisition form for the patients. Further details below.
    • Perform an in-surgery test by ordering a Dried Blood Spot (DBS) kit (excluding MPS tests).

    Pathology Forms

    Initial (Screening) Tests

    Click on your preferred provider below to download the pathology request form.

    Please allow 4-5 weeks for test results. If you have any questions about the result, please contact the National Referral Laboratory on 08 8161 6701 or email health.nrlbiochemicalgenetics@sa.gov.au.

    If follow up testing is recommended please use the pathology form available under Pathology Forms – Subsequent Tests.

     

    Subsequent (confirmatory) Tests

    This test is fully funded by Sanofi Genzyme. Only use these forms when follow up testing has been suggested by the laboratory. Click on your preferred provider below to download the pathology request form. 

    If you have any questions about the result, please contact the National Referral Laboratory on 08 8161 6701 or email NRLBiochemicalGenetics@sa.gov.au .

     

    Order a Dried Blood Spot (DBS) Testing Kit

    In a process similar to the heel prick test in newborn screening, a number of LSDs can be tested from blood samples collected on a Guthrie card. This can be performed in the convenience of the doctor’s surgery using a DBS Kit. Video instructions on how to use the DBS Kit are available here. Once the blood is collected, it is mailed to a specialised laboratory for analysis. Please allow 3-4 weeks for test result.

    The costs of the DBS Kit, shipping and analysis is funded by Sanofi Genzyme Australia-wide. No patient or HCP details are collected by Sanofi Genzyme when using this service.

     

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