Whole blood is required for this test. 7-10 mL of blood should be collected in a sodium heparin (green top) tube. Sample can only be drawn Monday - Thursday. Enzyme samples must arrive within 24 hours of blood draw. Therefore the sample must arrive at the IUHPL Test Send Out Lab by no later than 5PM to go out same day. If not the sample may be rejected. Ship overnight at room temperature. Specimens should be sent at ambient temperature. Do not freeze or allow the sample to get above room temperature during shipment.
Enzyme testing may be ordered as follow-up to abnormal urine screening or as a first tier testing. Enzyme analysis and demonstrating deficient activity is considered the gold-standard in diagnosing lysosomal storage disorders. Prenatal diagnosis and carrier testing via enzyme analysis are NOT available.
Whole blood is required for this test. 7-10 mL of blood should be collected in a sodium heparin (green top) tube. Sample can only be drawn Monday - Thursday. Enzyme samples must arrive within 24 hours of blood draw. Therefore the sample must arrive at the IUHPL Test Send Out Lab by no later than 5PM to go out same day. If not the sample may be rejected. Ship overnight at room temperature. Specimens should be sent at ambient temperature. Do not freeze or allow the sample to get above room temperature during shipment.
Enzyme testing may be ordered as follow-up to abnormal urine screening or as a first tier testing. Enzyme analysis and demonstrating deficient activity is considered the gold-standard in diagnosing lysosomal storage disorders. Prenatal diagnosis and carrier testing via enzyme analysis are NOT available.
