• Test Code:
    9590
  • Department:
    Biochemical Genetics
  • Test Synonyms:
    Oligosaccharides, Qualitative
  • CPT Code(s):
    84377
Background:

Qualitative analysis of urinary oligosaccharides is necessary for the detection of several lysosomal storage diseases including mannosidosis, fucosidosis, GM1 gangliosidosis, and sialic acid storage disease. Affected individuals may present with developmental regression, coarse facial features, hepatosplenomegaly, corneal clouding, deafness, or seizures.

Methodology:

Thin layer chromatography

Specimen Requirements:

Urine: 3-5 mL, clean catch spot specimen or aliquot from a timed urine specimen

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Every Two Weeks

Turn Around Time:

5-14 days

Shipment Sensitivity Requirements:

  • Freeze specimen, package in styrofoam shipper with ample dry ice to keep frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services at (855) 535-1522 for shipping kits and instructions.

References:

Additional Info:

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