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Test ID OLIWB Oligosaccharidoses Screen, Leukocytes

Useful For

Screening for possible oligosaccharidoses

Method Name

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

Reporting Name

Oligosaccharidoses Screen, WBC

Specimen Type

Whole Blood ACD

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.

 

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.

Forms:

1. Biochemical Genetics Patient Information (T602) in Special Instructions.

2. If not ordering electronically, complete, print, and send a Neurology Test Request Form-General (T732) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/neurology-request-form.pdf)

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; 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 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

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 to 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: Hurler-like, with mucolipidosis  II being more severe and including cardiomyopathy and coronary artery disease

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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

14 days

Performing 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

NY State Approved

Conditional