Test Catalog

Test ID: PDBS    
Pompe Disease, Blood Spot

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

Dried blood spots are processed using 2 analytical protocols with postanalytical integration of all test results.


Protocol 1:

A dried blood spot is extracted by the addition of methanol with known concentrations of isotopically labeled amino acids and acylcarnitines, which are used as internal standards. The extract is derivatized by the addition of 3M HCl in n-butanol. From the residual blood spot a second extraction and derivatization is performed and analyzed concurrently by electrospray tandem mass spectrometry (ESI-MS/MS) for creatine and creatinine.(Turgeon C, Magera M, Allard P, et al: Combined newborns screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem 2008;54[4]:657-664)


Protocol 2:

Two 3-mm dried blood spots are excised from a single specimen and placed into individual plates. One spot is treated with a solution 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). The enzyme plate is sealed and incubated overnight. Following the incubation the enzyme plate is purified by liquid-liquid extraction. The second dried blood spot is extracted with methanol containing d4-C26 lysophosphatidylcholines (LPC) on day 2 of the procedure. The LPC extracts and enzyme products are combined and analyzed concurrently by ESI-MS/MS.(Tortorelli S, Turgeon C, Gavrilov D, et al: Simultaneous testing for 6 lysosomal storage disorders and X-adrenoleukodystrophy in dried blood spots by tandem mass spectrometry. Clin Chem 2016;62[9]:1248-1254)

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


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

Monday through Sunday

Report Available The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

2 to 3 days

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


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