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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:
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:
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.
See Also:
More Information:
Specimen Handling: If you have any questions, please communicate with the Metabolic Lab (HSC): 204-787-4530
 
Reject due to:
Low volume
Sample arriving on a weekend.
Incorrect tube preservative.
 
Stability: After Metabolic prep, sample is stable room temperature 7 days.
 
Central Services HSC:
Store and ship to Mayo Clinic Laboratory
Test ID:  PLSD
CPT code: 83759