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Test ID: OLITC    
Oligosaccharidoses Screen, Fibroblasts

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

This screening assay assesses the activity of 6 enzymes associated with 9 oligosaccharidoses in leukocytes by tandem mass spectrometry. The 6 enzymes are deficient or absent in alpha-mannosidosis, beta-mannosidosis, alpha-fucosidosis, Schindler disease, GM1 gangliosidosis, Morquio B, and sialidosis. Additionally, galactosialidosis, mucolipidoses II-alpha/beta, III-alpha/beta, and III-gamma are associated with 2 or more deficiencies of these enzymes.

 

Leukocyte lysates and blanks are prepared and each placed into 6 wells of a 96-deep well plate. The following substrates are added to the plate: sialidosis substrate; alpha-mannosidosis, beta-mannosidosis and Shindler disease substrate; alpha-fucosidosis and GM1/Morquio B substrate. The plate is sealed and incubated for 16 hours. Following the 16-hour incubation, the reactions are stopped using ammonium hydroxide and purified using solid phase extraction. The purified extracts are evaporated, reconstituted, and analyzed by tandem mass spectrometry. The percent reduction of substrates in the specimen as compared with the percent reduction of substrates in the blank control (no leukocytes added) is calculated.(Unpublished Mayo method)

 

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

No

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.

Varies

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.

30-45 days depending on rapidity of growth

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

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 The location of the laboratory that performs the test

Rochester