PLSD - Performance: Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot

Test Catalog

Test ID: PLSD    
Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot

Method Description Describes how the test is performed and provides a method-specific reference

This test measures the activity of enzymes associated with 6 lysosomal storage disorders (LSDs) as well as C20, C22, C24, and C26 lysophosphatidylcholine (LPC) species in DBS by tandem mass spectrometry. The 6 enzymes are deficient or absent in Gaucher, Niemann-Pick A/B, Pompe, Krabbe, Fabry disease, or mucopolysaccharidosis I (MPS I). Long chain (C24 and C26) LPC species are elevated in patients with peroxisomal disorders such as X-linked adrenoleukodystrophy (X-ALD) and peroxisomal biogenesis disorders. LPCBS / Lysophosphatidylcholines by Liquid Chromatography Tandem Mass Spectrometry (Reflex), Blood Spot also measures LPC species in dried blood spots by tandem mass spectrometry and serves as a second-tier method to this assay. Samples with abnormal concentrations of lysophosphatidylcholines as measured using this assay will be reinjected and analyzed using LPCBS / Lysophosphatidylcholines by Liquid Chromatography Tandem Mass Spectrometry (Reflex), Blood Spot.


Two 1/8" dried blood spots are excised from a single specimen and placed into individual microtiter plates. One spot is treated with Perkin Elmer 6-Plex Mix containing substrate and internal standard for acid sphingomyelinase (ASM), beta-glucocerebrosidase (ABG), alpha-glucosidase (GAA), alpha-galactosidase (GLA), galactocerebrosidase (GALC), and alpha-L-iduronidase (IDUA) is added. The enzyme plate is sealed and incubated for 18 hours (+ or -2 hours). Following the incubation the enzyme plate is purified by liquid-liquid extraction. The second dried blood spot is extracted with methanol containing d4-C26 LPC on day 2 of the procedure. The extracts are evaporated and reconstituted in the prepared LPC plate and analyzed by tandem mass spectrometry.(Unpublished Mayo method)

PDF Report Indicates whether the report includes an additional document with charts, images or other enriched information


Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.

Tuesday; 8 a.m.

Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.

2 days

Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result

16 days

Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

1 year

Performing Laboratory Location The location of the laboratory that performs the test