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Order Code LABGOR, MANN Alpha-Mannosidase, Leukocytes

Additional Codes

Mayo Test Code: MANN

Reporting Name

Alpha-Mannosidase, Leukocytes

Useful For

Diagnosis of alpha-mannosidosis

 

This test is not useful for establishing carrier status for alpha-mannosidosis.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole Blood ACD


Ordering Guidance


If clinically suspicious of an oligosaccharidosis, a screening test is available. Order OLIGU / Oligosaccharide Screen, Random, Urine.

Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerate within 6 days of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected 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: Send specimen in original tube. Do not aliquot.


Specimen Minimum Volume

5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD Refrigerated (preferred) 6 days YELLOW TOP/ACD
  Ambient  6 days YELLOW TOP/ACD

Reference Values

≥0.54 nmol/min/mg protein

Day(s) Performed

Preanalytical processing: Monday through Saturday

Assay performed: Once per month

CPT Code Information

82657

Genetics Test Information

Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent acid alpha-mannosidase enzyme activity.

 

Determining enzymatic activity is the next step of the diagnostic workup for an individual clinically suspicious for an oligosaccharidosis with a positive screening result suggestive of alpha-mannosidosis.

Method Description

The deficiency of alpha-D-mannosidase is demonstrable using the artificial substrate 4-methylumberiferal alpha-D-mannopoyranoside.(Gehler J, Cantz M, Tolksdorf M, Spranger J, Gilbert E, Drube H: Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency. Humangenetik. 1974 Jul;23[2]:149-158. doi: 10.1007/BF00282212; Cowan T, Pasquali M: Laboratory investigations of inborn errors of metabolism. In: Sarafoglou K, Hoffman GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill; 2017:1139-1158)

Reject Due To

Gross hemolysis Reject

Method Name

Fluorometric

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602)

3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.