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Guthrie Card Whole Blood (Preferred): Two spots on a Guthrie card (newborn screening card) is sufficient. Please air dry at least 2hrs before sending. Or 3-5 mL EDTA Whole Blood: Whole blood EDTA sample, must arrive at LabPlus within 24hrs of collection and between Mon 0800 to Fri lunchtime, to enable processing within working hours. |
Whole blood EDTA sample must arrive at LabPlus within 24hrs of collection and Mon 0800 to Fri lunchtime.
Mark parcel as urgent.
LabPlus - please deliver whole blood EDTA urgently to Biochemical Genetics for spotting on to card.
UOM Unknown - referral lab
Reference intervals will be provided on report.
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Referred to SA Pathology, Adelaide Women's and Children's Hospital See: https://www.sapathology.sa.gov.au/clinicians/testing-screening/search-test-catalogue Tandem Mass Spectrometry |
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The first tier test for initial diagnosis for all Fabry requests is alpha galactosidase activity. State clearly on form: for enzymatic diagnosis of Fabry's Disease. Some female heterozygotes may have normal / low alpha-galactosidase A activity. In this case clinical correlation is recommended and testing plasma Lyso-GB3 as a second tier test before proceeding with molecular analysis. For GLA mutation analysis see Single Gene Tests (Germline) |
For further information contact laboratory: ext 22016 or via Lablink.
or, contact the Metabolic Physician-on-call: 09 367 0000
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Dried blood spots on Guthrie card is the preferred sample ? blood is stable on card once dried at room temperature. Dry card for at least 2 hours at room temperature (>8 ?C to ?24?C) . Transport to Biochemical Genetics, LabPlus at either Room Temperature (>8 ?C to ?24?C) , Chilled or Frozen. Alternatively: Collect EDTA whole blood . Transport to LabPlus within 24hrs of collection and between Mon 0800 to Fri lunchtime. Room Temperature (>8 ?C to ?24?C) Sample must not be frozen. Do not centrifuge. Send whole blood. Mark parcel as urgent. |