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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, screening tests are available. Order either OLIGU / Oligosaccharide Screen, Random, Urine or LSDS / Lysosomal Disorders Screen, Random, Urine which includes a combined analysis of ceramide trihexosides, mucopolysaccharides, oligosaccharides, sulfatides, and total and free sialic acid.



Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Pre-analytical processing is performed Monday through Friday and Sunday. This test may be canceled if specimens are outside of stability when processing occurs. Collect and package specimens for arrival on days when processing is performed.



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 Friday, Sunday

Assay performed: Friday

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MANN Alpha-Mannosidase, Leukocytes 24053-1

 

Result ID Test Result Name Result LOINC Value
35639 Alpha-Mannosidase, Leukocytes 24053-1
35640 Interpretation (MANN) 59462-2
35641 Reviewed By 18771-6

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;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.