| Laboratory: | Clinical Biochemistry (SENDOUTS) | ||||
| Test Name: |
LYSOSOMAL ENZYMES - (B)
Test Code:
PLSD
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| Clinical Information: |
Alternate Name(s): Lysosomal & Peroxisomal Disorders Screen (with reflex)
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. Test Approval Requirements: Clinical Biochemist Approval Required Approval is not required for patients <19 years. For adults (≥19y) testing is restricted without approval to following specialties: hematology, nephrology, neurology, and genetics. All other requests require test approval. Click here for the Approval for Test Referral Biochemistry for (F260-11-02).
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| Collection Devices: |
Alternate Device: ACD Solution B 6 mL Tube(s) - Full Tube Collection
Device Comment: Microtainer EDTA 0.5 mL pediatric to fill line is acceptable |
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| Specimen Required: |
Blood: 0.2 mL
Pediatric Blood: 0.2 mL
Adult: Blood Volume 0.2 mL or 1 Spot Pediatric: Blood volume 0.2 mL or 1 Spot Collection Information: 1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect a Dried Blood Spot Sample. 2. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle). 3. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours. 4. Do not expose specimen to heat or direct sunlight. 5. Do not stack wet specimens. 6. Keep specimen dry. Ambient: 28 days Filter Paper Refrigerated: 90 days Filter Paper Frozen: 90 days Filter Paper |
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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: |
Within 2 Weeks
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 |