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Test ID OLITC Oligosaccharidoses Screen, Fibroblasts

Useful For

Screening for possible oligosaccharidoses


The oligosaccharide screening test analyses the activity of 6 enzymes in fibroblasts.


Deficiency or absence of these enzymes is associated with 9 different oligosaccharidosis, including alpha-mannosidosis, beta-mannosidosis, alpha-fucosidosis, Schindler disease, GM1 gangliosidosis, Morquio B, sialidosis, galactosialidosis,  and mucolipidoses.


Patients with mild sialidosis or older patients with mild clinical phenotypes may not be detected by this test.

Method Name

OLITC: Enzyme Reaction Assay Followed by Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

FIBR: Cultivated from Biopsy as Monolayer

CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage

Reporting Name

Oligosaccharidoses Screen, Fibro

Specimen Type


Specimen Required

This test is not appropriate for prenatal testing.


Submit only 1 of the following specimens:


Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 Full T-75 flask or 2 full T-25 flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours


Specimen Type: Skin biopsy

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [T115]).

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient

Specimen Stability Information

Specimen Type Temperature Time
Tissue Varies

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed


Performing Laboratory

Mayo Medical Laboratories in Rochester

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
OLITC Oligosaccharidoses Screen, Fibro In Process


Result ID Test Result Name Result LOINC Value
35877 Oligosaccharidoses Screen, Fibro 82506-7
35876 Reviewed By No LOINC Needed

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Testing Algorithm

When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast cultures, only 1 culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 10 days, client will be notified.

Additional Tests

Test ID Reporting Name Available Separately Always Performed
FIBR Fibroblast Culture Yes Yes
CRYOB Cryopreserve for Biochem Studies No Yes