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Order Code LABGOR, FUCW Alpha-Fucosidase, Leukocytes

Additional Codes

Order Miscellaneous Mayo Test Code: LABGOR with Mayo Test code: FUCW

Reporting Name

Alpha-Fucosidase, Leukocytes

Useful For

Detection of fucosidosis

 

This test is not useful for establishing carrier status for fucosidosis.

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

≥0.32 nmol/min/mg protein

Day(s) Performed

Preanalytical processing: Monday through Saturday

Assay performed: Once per month

CPT Code Information

82657

Genetics Test Information

Fucosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent alpha-L-fucosidase enzyme activity.

 

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

Method Description

Incubation of 4-methylumbelliferyl-alpha-L-fucopyranoside with cell homogenates results in cleavage of the substrate by alpha-L-fucosidase yielding 4-methylumbelliferone (4-MU) and fucose. Free 4-MU can be quantitated by measurement of the fluorescence.(Beratis NG, Turner BM, Labadie G, Hirschhorn K: a-L-fucosidase in cultured skin fibroblasts from normal subjects and fucosidosis patients. Pediatr Res. 1977 Jul;11[7]:862-866; 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.

Testing Algorithm

For more information see Lysosomal Disorders Diagnostic Algorithm, Part 1