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HelpTest ID OLITC Oligosaccharidoses Screen, Fibroblasts
Useful For
Screening for possible oligosaccharidoses
Additional Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FIBR | Fibroblast Culture | Yes | Yes |
| CRYOB | Cryopreserve for Biochem Studies | No | Yes |
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.
Special Instructions
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, FibroSpecimen Type
TissueThis test is not appropriate for prenatal testing.
Forms: Biochemical Genetics Patient Information (Supply T602) in Special Instructions.
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 [Supply T115]).
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/Ambient
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Tissue | Varies | |
Clinical Information
Oligosaccharidoses are a group of autosomal recessively inherited lysosomal disorders of glycoprotein catabolism. There is no treatment available at this time for these disorders. Details about the different oligosaccharidoses detected by this screening test are provided in the Table.
Table. Conditions identifiable by method(1):
|
Disorder |
Onset |
Gene |
Enzyme Deficiency |
Worldwide Incidence |
|
Alpha-mannosidosis |
Infancy (severe, Type I) Adult (mild, Type II) Prenatal (severe, Type III) |
MAN2B1 |
Alpha- mannosidase (alpha-Mann) |
1:500,000 |
|
Phenotype: highly variable; "mild" Hurlerlike features, learning difficulties, hepatosplenomegaly, deafness, immune deficiency |
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|
Beta-mannosidosis |
Infancy to adolescence |
MANBA |
Beta-mannosidase (beta-Mann) |
<30 patients described |
|
Phenotype: highly variable; learning difficulties, deafness, frequent infections |
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|
Alpha-fucosidosis |
Infancy to early childhood |
FUCA1 |
Alpha-fucosidase (alpha-Fuc) |
<100 patients described |
|
Phenotype: highly variable; psychomotor retardation, coarse facial features, growth delay; angiokertoma, elevated sweat chloride |
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|
Schindler disease |
Infancy (severe, Type I; intermediate, Type III) Adult (mild, Type II) |
NAGA |
Alpha-N-Acetyl-galactosaminidase (alpha-NAcGal) |
<30 patients described |
|
Phenotype: highly variable; early onset neurodegenerative phenotype to late onset angiokeratoma to no symptoms (phenotype may be dependent on additional factors than just alpha-NAcGal deficiency |
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|
GM1 gangliosidosis (a sphingolipidosis) |
Infancy (severe, Type I; intermediate, Type II) Adult (mild, Type III) |
GLB1 |
Beta-galactosidase (beta-Gal) |
1:200,000 |
|
Phenotype: fetal hydrops/neonatal cardiomyopathy to early developmental delay/arrest, facial coarseness, hepatosplenomegaly, failure to thrive, to 2nd/3rd decade onset of ataxia, speech abnormalities leading to spinocerebellar degeneration and cognitive decline. Cherry-red spot in early onset variants |
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|
Mucopolysaccharidosis type IVB (Morquio B) |
Childhood |
GLB1 |
Beta-galactosidase (beta-Gal) |
<30 patients described |
|
Phenotype: dwarfism with scoliosis and vertebral deformities noted between 1 and 4 years old and progressively worsening; typically no CNS involvement; keratan sulfate excretion in urine |
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|
Sialidosis (ML I) |
Early adulthood (Type I) Earlier for congenital, infantile, and juvenile forms (Type II) |
NEU1 |
Alpha-neuraminidase (Neu) |
<30 patients described |
|
Phenotype: fetal hydrops to early developmental delay, coarse facial features, dysostosis multiplex and hepatosplenomegaly, to late onset cherry-red spot myoclonus syndrome |
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|
Galactosialidosis |
Early infancy, late infancy or early adult |
CTSA |
Cathepsin A causing secondary deficiencies in beta-Gal and Neu |
<30 patients described |
|
Phenotype: highly variable from fetal hydrops, edema, coarse facial features, corneal clouding, cherry-red spot, dysostosis multiplex, hepatosplenomegaly, mental retardation to milder presentation with survival to adulthood |
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|
Mucolipidosis II-alpha/-beta (I-Cell) Mucolipidosis III-alpha/-beta and III-gamma (Pseudo-Hurler Polydystrophy) |
Early infancy; death usually by age 5-8
|
GNPTAB |
N-acetylglucosaminyl-1-phosphotransferase deficiency causing secondary intracellular deficiency of multiple enzyme activities |
1:300,000 |
|
Early childhood, may live well into adulthood |
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|
Phenotype: Hurlerlike, with ML II being more severe and including cardiomyopathy and coronary artery disease |
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Reference Values
An interpretive report will be provided.
Cautions
The test can give false-negative results, especially in older patients with mild clinical presentations. Patients with mild sialidosis are not reliably detected.
Additional biochemical or molecular genetic analysis is required to confirm a suspected diagnosis.
Day(s) Performed
Varies
Report Available
30-45 days depending on rapidity of growthPerforming Laboratory
Mayo Medical Laboratories in Rochester
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.CPT Code Information
82657