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Test Code FUCW Alpha-Fucosidase, Leukocytes

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

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
FUCW Alpha-Fucosidase, Leukocytes 24047-3

 

Result ID Test Result Name Result LOINC Value
8814 Alpha-Fucosidase, Leukocytes 24047-3
35635 Interpretation (FUCW) 59462-2
35634 Reviewed By 18771-6

Interpretation

Values below 0.32 nmol/min/mg protein are consistent with a diagnosis of fucosidosis.

Clinical Reference

1. Enns GM, Steiner RD, Cowan TM: Lysosomal disorders. In: Sarafoglou K, Hoffmann GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. McGraw-Hill Medical Division; 2009:747-748

2. Thomas GH: Disorders of glycoprotein degradation: Alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed February 17, 2022. Available at: https://ommbid.mhmedical.com/content.aspx?sectionid=225545029

3. Stepien KM, Ciara E, Jezela-Stanek A. Fucosidosis-clinical manifestation, long-term outcomes, and genetic profile-review and case series. Genes (Basel). 2020 Nov 22;11(11):1383. doi: 10.3390/genes11111383

Report Available

30 to 45 days

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.