Test Catalog

Test ID: PDCRF    
Pompe Disease Cross-Reactive Immunological Material Status, Fibroblasts

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

Western blot analysis is performed using fibroblasts cultured from a skin biopsy. Lysed cells are quantitated for protein, separated by gel electrophoresis, and transferred to a polyvinylidene difluoride (PVDF) membrane. The PVDF membrane is then incubated with antibodies specific to acid alpha-glucosidase (GAA, the protein of interest) and b-actin (used as an internal quality control protein). A chemiluminescent substrate is added to the membrane and the emitted light signal is captured by digital imaging. If specific bands are present, the patient is determined to be cross-reactive immunologic material (CRIM)-positive while the absence of these bands indicates a CRIM-negative result.(Wang Z, Okamoto P, Keutzer J: A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. Mol Genet Metab. 2014;111:92-100)

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.


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.

30 to 45 days

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

3 years-Check with the lab for availability

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