Logo
FoundationCareersLocations

Alpha-mannosidosis Serum Oligosaccharide Analysis

Home
Test Finder
Alpha-mannosidosis Serum Oligosaccharide Analysis

Key Information

Lab:

Biochemical

TAT:

21 days

Price:

$300

CPT Code(s):

84379

Test Code:

BSAM

Order Form

Alpha-mannosidosis Serum Oligosaccharide Analysis

Patients with alpha-mannosidosis cannot break down oligosaccharides containing a terminal mannose residue, leading to their accumulation in body tissues. This assay measures the GlcNAc(Man)2 oligosaccharide that accumulates in these patients and can be used for both diagnosis and treatment monitoring.

Alpha-mannosidosis

Clinical Information

Alpha-mannosidosis is caused by a deficiency of the lysosomal enzyme alpha-mannosidase, which is required for the degradation of oligosaccharides containing a terminal mannose residue. The clinical presentation of alpha-mannosidosis varies in severity, but typical features include coarse facial features, intellectual disability, skeletal abnormalities, hearing loss, hepatosplenomegaly and recurrent infections.

Technical Information

Oligosaccharides are measured using liquid chromatography-tandem mass spectrometry (LC-MS/MS).

Specimen Requirements

  • Plasma or serum is the accepted sample type for this test. A minimum of 3 mL whole blood collected in a sodium heparin tube or serum separator tube.
  • Or blood can be centrifuged and a minimum of 1 mL plasma or serum removed and sent for analysis.

Transport Instructions

  • Plasma or serum should be frozen after collection and shipped frozen, preferably on dry ice.
  • Whole blood should be shipped at ambient temperature.

Associated Tests

Connect With Our Experts

Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.

Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

Email the Lab