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Laboratory: Clinical Biochemistry  (METABOLIC)
Test Name:
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.

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.     
Reference Values:
An interpretative report will be provided.
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