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Laboratory:

Clinical Biochemistry (METABOLIC)

Test Name:

LYSOSOMAL ENZYMES - (B)

Test Code: PLSD

Clinical Information:

Test Indications: This test is used as a First-Tier screening test for the evaluation of patients with a clinical presentation suggestive of a lysosomal storage disorder, specifically Gaucher, Niewmann-Pick type A or B, Pompe, Krabbe disease, Fabry disease or mucopolysaccharidosis I; or a peroxisomal disorder, either X-linked adrenoleukodystrophy or Zellweger syndrome spectrum.

Enzymes screened:
Acid beta-glucosidase                   Gaucher
Sphingomyelinase                         Niewmann-Pick A/B
Acid alpha-glucosidase                  Pompe
Galactocerebrosidase                    Krabbe
Alpha-galactosidase                       Fabry
Alpha-L-iduronidase                      MPS I
C20 Lysophosphatidylcholine        NA
C22 Lysophosphatidylcholine        NA
C24 Lysophosphatidylcholine        ALD/PBD/ALDH
C26 Lysophosphatidylcholine        ALD/PBD/ALDH

NOTES: Additional biochemical or molecular testing is required to confirm a diagnosis if enzyme deficiency is detected by this screening test.

This test is not recommended to evaluate an adult patient with a clinical presentation suggestive of adrenomyeloneuropathy (AMN). Lysophosphatidylcholine concentrations may not be consistently elevated in adult blood.

Method: Flow Injection Analysis-Tandem Mass Spectometry (FIA-MS/MS)
Test performed: Mayo Clinic Laboratory

For questions/information: Call Metabolic Lab at 204-787-4530 and ask for the Biochemical Geneticist.

Collection Devices:

Preferred Device:	1 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	1 - Li Heparin, NO GEL 4.0 mL Tube(s) - Full Tube Collection Li Heparin, NO GEL 4.0 mL Tube(s) - Full Tube Collection Manufacturer: BD (Becton Dickinson) Catalogue #: 367884

Microtainer EDTA 0.5 mL pediatric to fill line

This must be kept refrigerated as whole blood after collection.

DO NOT centrifuge!

Specimen Required:

Collect ONLY Monday-Thursday excluding holidays.

Send as whole blood to HSC Metabolic Lab immediately after the collection.

See availability section below.

Referral:

Keep and store refrigerated. Send sample to Metabolic Lab at HSC immediately after the collection.
Send the requisition (or a clear copy) with the sample.
See stability section below.

Requisition:

_SH Biochemical Genetics Laboratory Requisition (R250-10-69)

Reference Values:

An interpretative report will be provided.

Availability:

Weekdays (Mon to Thurs)

The latest sample must arrive in the Metabolic Lab by Thursday 24:00 for the sample to be prepared by Metabolic Lab staff for referal to Mayo Lab. Results usually within two weeks.