| Laboratory: | Clinical Biochemistry (METABOLIC) | ||||
| Test Name: |
LYSOSOMAL ENZYMES - (B)
Test Code:
PLSD
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| 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. |
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| Collection Devices: |
Microtainer EDTA 0.5 mL pediatric to fill line
This must be kept refrigerated as whole blood after collection. DO NOT centrifuge! |
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| Specimen Required: |
Collect ONLY Monday-Thursday excluding holidays. Send as whole blood to HSC Metabolic Lab immediately after the collection. See availability section below. |
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| 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. |
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| Requisition: | |||||
| Reference Values: |
An interpretative report will be provided.
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| 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.
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| 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 |