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Lysosomal Enzyme Testing

Referred out for testing

Source Blood
Mnemonic

BGLBL

BGL Test field: enter the name(s) of the test(s) requested.

TEST NAME ALERT: Lysozyme is not the same test as Lysosomal Enzyme. CLS staff see the Referral Test Guide located on the CLS Intranet Pre-examination pages.

Specimen Requirements

For enzymes measured using T-cells (see additional information): 1 x 4 mL dark green top sodium heparin tube or 1 x 4 mL dark green lithium heparin tube, NOT PST.  Minimum: 3 mL whole blood for ALL enzymes.

For enzymes measured in plasma (see additional information): 1 x 4 mL dark green top sodium heparin or 1 x 4 mL dark green lithium heparintube, NOT PST.  Minimum:0.25 mL plasma for EACH enzyme.

For enzymes measured in serum (see additional information): 1 x 4 mL red top tube, NOT SST.  Minimum 0.25 mL serum.

It is recommended that patient go to ACH OP Lab for specimen collection.

Specimen Handling

Send a copy of the requisition with the specimen.

For lysosmal enzyme testing using T-cells (see additional information), refer to Establishment of T-Lymphocyte Culture.

For lysosomal enzyme testing in plasma:

PSC:
Centrifuge, transfer plasma to aliquot tube, write "NaHep" or "LiHep" on the aliquot tube, and transport on ice to DSC.

RRL:
Centrifuge, transfer plasma to aliquot tube, write "NaHep" or "LiHep" on the aliquot tube, and transport on ice to ACH.

Extra-regional:
Centrifuge, transfer plasma to aliquot tube, write "NaHep" or "LiHep" on the aliquot tube, and freeze prior to transport to DSC.

DSC:
Freeze plasma upon receipt in lab; ensure frozen specimens do not thaw.

For lysosomal enzyme testing in serum (see additional information), refer to Hexosaminidase.

Additional Information

The following lysosomal storage disorders enzymes are measured on the specific sample types (as described below).  Requests for testing should be supported by a high index of clinical suspicion specific to the disorder in question, and by a high index of clinical suspicion specific to the disorder in question, and by the results of any relevant frontline testing, when applicable (e.g. elevated quantitative uronic acids and abnormal glycosaminoglycan electrophoresis pattern for mucopolysaccharidosis enzyme testing, specific urine oligosaccharide electrophoresis pattern for oligosaccharidosis enzyme testing).

Lysosmal storage disorder enzymes measured using T-cells.
-alpha-Glucosidase (for Pompe Disease)
-alpha-lduronidase (for Hurler-Scheie Syndrome)
-Arylsulfatase A (for Metachromatic Leukodystrophy)
-Arylsulfatase B (for Marteaux-Lamy Syndrome)
-beta-Galactosidase (for GM1 Gangliosidosis/Morquio B Syndrome)
-beta-Glucosidase (for Gaucher Disease)
-Galactocerebrosidase (for Krabbe Disease)
-Sphingomyelinase (for Niemann-Pick Disease Type A/B)

Lysosomal storage disorder enzymes measured in plasma:
-alpha-Fucosidase (for Fucosidosis)
-alpha-Galactosidase (for Fabry Disease; see alpha Galactosidase)
-alpha-Mannosidase (for alpha-Mannosidosis)
-beta-Mannosidase (for beta-Mannosidosis)
-Iduronate-2-Sulfatase (for Hunter Syndrome)

Lysosomal storage disorder enzymes measured in serum:
Hexosaminidase (for Tay Sachs and Sandhoff disease; see Hexosaminidase)

Any request for "I-Cell Disease" or "Mucolipidosis type II or III" requires the following tests to be ordered, and samples collected:
-alpha-Fucosidase (plasma)
-alpha-Mannosidase (plasma)
-beta-Mannosidase (plasma)
-Hexosaminidase (serum)

Testing Location ACH Biochemical Genetics Lab
Testing Frequency Monthly; note that T-cell pellets will be harvested for testing 2-3 weeks following receipt of sample.
Alternate Name(s)
Reference Interval Provided on test report.