Alpha-Mannosidase, Leukocytes
Use
The test is primarily used for the diagnosis of alpha-mannosidosis, an autosomal recessive lysosomal storage disorder caused by reduced or absent acid alpha-mannosidase enzyme activity. It is particularly useful for individuals clinically suspected of having an oligosaccharidosis with a positive screening suggestive of alpha-mannosidosis. The test evaluates enzymatic activity as part of the diagnostic workup.
Special Instructions
If there is clinical suspicion of an oligosaccharidosis, initial screening tests such as OLIGU / Oligosaccharide Screen, Random, Urine or LSDS / Lysosomal Disorders Screen, Random, Urine are advised. Specimens should be collected Monday through Thursday and not before holidays. Ensure specimens arrive refrigerated within 6 days of collection for optimal leukocyte isolation. Proper informed consent, especially for NY clients, is required and should be documented.
Limitations
This test is not suitable for establishing carrier status for alpha-mannosidosis. No significant cautionary statements are provided; hence, avoiding improper specimen collection and handling is crucial to prevent diagnostic confusion. As with many genetic tests, the interpretation may be complicated by variable clinical presentation and overlaps with other lysosomal storage disorders.
New York Approved
Methodology
Other
Biomarkers
LOINC Codes
- 24053-1
- 24053-1
- 59462-2
- 18771-6
Result Turnaround Time
2-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
6 mL
Minimum Volume
5 mL
Container
Yellow top (ACD solution B preferred, A acceptable)
Collection Instructions
Send specimen in original tube. Do not aliquot.
Storage Instructions
Refrigerate within 6 days of collection.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |