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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, 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 refrigerate within 6 days of collection to be stabilized. Collect specimen only Monday through Thursday 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: Friday

Specimen Retention Time

WBC homogenate: 1 month

Report Available

8 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 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.