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Test Code: miscbi Preferred Name Fabry Disease

No
N/A
Weekly
2 months
Non-medicare Item
N/A

Test Tubes

ImageSpecimen TypeSpecimen VolumeTube Type
Blood (adult)6 mL2 X EDTA 6 ML (Pink top)
Blood (paediatric)2 mLEDTA 3 mL whole blood (Lavender top)
Blood (neonatal)2 mLEDTA 3 mL whole blood (Lavender top)
Do not use NBS cards, or cards used for 17 OHP or phe/tyr. Genzyme cards must be used for this enzyme request. Metabolic keeps a supply and will apply EDTA blood to cards.
If Genzyme cards are used and the DBS sent to ACH there is no cost to unit or patient. If incorrect cards are sent cost is approximately $330.

APPLICATION:  Diagnosis of lysosomal storage diseases:Fabry (alpha galactosidase),

INTERPRETATION:  Enzyme levels are absent or very low in affected patients. Carriers may have normal or slightly reduced levels.  Some variant forms of disease may show normal levels with synthetic substrates. Plasma enzymes are elevated in mucolipidosis II and III, wheras intracellular enzymes are low.

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