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Test 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.

Reporting Name

Oligosaccharidoses Screen, Fibro

Specimen Type

Tissue


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

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

Beta-mannosidosis

Infancy to adolescence

MANBA

Beta-mannosidase (beta-Mann)

<30 patients described

Phenotype: highly variable; learning difficulties, deafness, frequent infections

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

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

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

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

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

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

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

Phenotype: Hurlerlike, with ML II being more severe and including cardiomyopathy and coronary artery disease

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Reference Values

An interpretive report will be provided.

Interpretation

This is a screening test; not all oligosaccharidoses are detected. The resulting enzyme activities may be characteristic of a specific disorder; however, abnormal results require confirmation by additional biochemical or molecular genetic analysis.

 

When abnormal results are detected, a detailed interpretation is given, including an overview of results and significance, a correlation to available clinical information, elements of differential diagnosis, and recommendations for additional confirmatory studies (enzyme assay, molecular genetic analysis).

Clinical Reference

Part 16: Lysosomal Disorders. In Scriver's The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). Edited by D Valle, AL Beaudet, B Vogelstein, et al. McGraw-Hill Medical Division. Accessed 3/23/2016. Available at http://ommbid.mhmedical.com/book.aspx?bookid=971

Day(s) and Time(s) Performed

Varies

Analytic Time

30-45 days depending on rapidity of growth

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

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

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

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical