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HelpTest ID 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.
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
Beta-Glucuronidase, WBCSpecimen Type
Whole Blood ACDSpecimen 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 |
Clinical Information
Mucopolysaccharidosis VII (MPS VII, Sly syndrome) is an autosomal recessive lysosomal storage disorder caused by the deficiency of beta-glucuronidase. Clinical features and severity of symptoms of MPS VII are widely variable ranging from severe lethal hydrops fetalis to more mild forms which generally present with later onset and a milder clinical presentation. In general, symptoms may include skeletal anomalies, coarse facies, hepatomegaly, neurological issues, and intellectual disability. Sly syndrome is one of the least common mucopolysaccharidoses with an incidence of 1 in 250,000 live births.
A diagnostic workup for MPS includes glycosaminoglycan (GAG) determination in urine (MPSQU / Mucopolysaccharides Quantitative, Random, Urine) or blood (MPSBS / Mucopolysaccharidosis, Blood Spot, or MPSER / Mucopolysaccharides Quantitative, Serum) and molecular genetic analysis of the relevant gene. For MPS VII, molecular analysis of the GUSB gene (CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; specify Gene List ID: IEMCP-L613TF) allows for detection of disease-causing variants in affected patients and subsequent carrier detection in relatives.
Reference Values
>3.50 nmol/hour/mg protein
An interpretive report will be provided.
Interpretation
Abnormal results are not sufficient to establish a diagnosis of a particular disease. To verify a preliminary diagnosis based on this assay, additional biochemical or molecular genetic analyses are required.
When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing, and in vitro, confirmatory studies (enzyme assay, molecular analysis), and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.
Cautions
Individuals with pseudodeficiency alleles can show reduced enzyme activity.
Carrier status (heterozygosity) for these conditions cannot be reliably detected.
Enzyme levels may be normal in individuals receiving enzyme replacement therapy or who have undergone hematopoietic stem cell transplant.
Clinical Reference
1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; Accessed May 25, 2023. https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225544161
2. Hopwood JJ, Ballabio A. Multiple sulfatase deficiency and the nature of the sulfatase family. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; Accessed May 25, 2023. https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225546905
Method Description
Leukocytes are incubated with four cocktail mixes: 1) substrate and internal standard (IS) for iduronate 2-sulfatase, heparan N-sulfatase, alpha-N-acetylglucosaminidase, N-acetylgalactosamine-sulfate, beta-galactosidase, arylsulfatase B, beta-glucuronidase, and tripeptidyl peptidase 1; 2) substrate and IS for acetyl-CoA:alpha-glucosaminide N-acetyltransferase; 3) substrate and IS for N-acetylglucosamine-6-sulfatase; and 4) substrate and IS for palmitoyl-protein thioesterase 1 in 96-well plates. Following overnight incubation, the plates are combined and purified by liquid-liquid extraction. The extracts are evaporated, reconstituted with mobile phase, and analyzed by tandem mass spectrometry.(Unpublished Mayo method)
Day(s) Performed
Preanalytical processing: Monday through Saturday
Testing performed: Tuesday
Report Available
8 to 15 daysTest 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