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Test Code FUCW Alpha-Fucosidase, Leukocytes

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Reporting Name

Alpha-Fucosidase, Leukocytes

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.


Reject Due To

Gross hemolysis Reject

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

Specimen Minimum Volume

5 mL

Day(s) Performed

Preanalytical processing: Monday through Saturday

Assay performed: Once per month

Specimen Retention Time

WBC homogenate: 1 month

Report Available

30 to 45 days

Reference Values

≥0.32 nmol/min/mg protein

Useful For

Detection of fucosidosis

 

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

Testing Algorithm

For more information see Lysosomal Disorders Diagnostic Algorithm, Part 1

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

Disease States

  • Fucosidosis

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.

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.