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Test ID: OLIWB Oligosaccharidoses Screen, Leukocytes

Useful For

Screening for a subset of oligosaccharidoses in leukocytes

Reporting Name

Oligosaccharidoses Screen, WBC

Specimen Type

Whole Blood ACD


Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive within 96 hours of draw to be stabilized. Draw specimen Monday through Thursday only and not the day before a holiday. Specimen should be drawn and packaged as close to shipping time as possible.



Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Yellow top (ACD solution A)

Specimen Volume: 6 mL

Collection Instructions: Do not transfer blood to other containers. Do not centrifuge.


Specimen Minimum Volume

5 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood ACD Refrigerated (preferred) 6 days
  Ambient  4 days

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" Hurler-like 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; angiokeratoma, elevated sweat chloride

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 second/third 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 central nervous system involvement; keratan sulfate excretion in urine

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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

14 days

Test Classification

This test has been modified from the manufacturer's instructions. Its performance characteristics were 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
OLIWB Oligosaccharidoses Screen, WBC In Process

 

Result ID Test Result Name Result LOINC Value
35879 Oligosaccharidoses Screen, WBC 82507-5
35878 Reviewed By No LOINC Needed

Method Name

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

Forms

Biochemical Genetics Patient Information (T602) in Special Instructions

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical