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Test Code GUSBW Beta-Glucuronidase, Leukocytes


Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated 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.



Necessary Information


1. Patient's age is required.

2. Reason for testing is required.



Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Send specimen in original tube. Do not aliquot.


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.

Useful For

Supporting the biochemical diagnosis of mucopolysaccharidosis type VII (MPS VII, Sly syndrome) in whole blood

 

This test is not useful for carrier detection.

Genetics Test Information

This test provides diagnostic testing for individuals with clinical signs and symptoms suspicious for mucopolysaccharidosis type VII (MPS VII, Sly syndrome). If an enzyme deficiency is detected by this test, additional biochemical or molecular testing is required to confirm a diagnosis.

Reporting Name

Beta-Glucuronidase, WBC

Specimen Type

Whole Blood ACD

Specimen Minimum Volume

5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD Refrigerated (preferred) 6 days
  Ambient  6 days

Reject Due To

Gross hemolysis Reject

Reference Values

>3.50 nmol/hour/mg protein

 

An interpretive report will be provided.

Day(s) Performed

Preanalytical processing: Monday through Saturday

Testing performed: Tuesday

Report Available

8 to 15 days

Specimen Retention Time

WBC homogenate: 1 month

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GUSBW Beta-Glucuronidase, WBC 24065-5

 

Result ID Test Result Name Result LOINC Value
BG763 Reason for Referral 42349-1
618289 Beta-glucuronidase 24065-5
618452 Interpretation 59462-2
618451 Reviewed By 18771-6