-1739993209.png){kind=logo}
Home
HelpTest Code GUSBB Beta-Glucuronidase, Blood Spot
Necessary Information
1. Patient's age is required.
2. Reason for testing is required.
Specimen Required
Submit only 1 of the following specimen types:
Preferred:
Specimen Type: Blood spot
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Blood Spot Collection Card
Acceptable: Whatman Protein Saver 903 Paper, PerkinElmer 226 filter paper, Munktell filter paper, or blood collected in tubes containing EDTA and dried on filter paper
Specimen Volume: 2 Blood spots
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
2. At least 2 spots should be complete (ie, unpunched).
3. Let blood dry on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.
4. Do not expose specimen to heat or direct sunlight.
5. Do not stack wet specimens.
6. Keep specimen dry.
Specimen Stability Information: Refrigerated (preferred) 60 days/Ambient 7 days/Frozen 60 days
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)
Acceptable:
Specimen Type: Whole Blood
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 2 mL
Collection Instructions: Send specimen in original tube. Do not aliquot.
Specimen Stability Information: Refrigerate (preferred) 7 days/Ambient 48 hours.
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.
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Specimen Type
Whole bloodSpecimen Minimum Volume
Blood Spots: 1
Whole Blood: 0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Varies | |
Reject Due To
| Blood spot specimen that shows serum rings or has multiple layers | Reject |
| Insufficient specimen | Reject |
| Unapproved filter papers | 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 1 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
>2.60 nmol/mL/hour
An interpretive report will be provided.
Day(s) Performed
Thursday
Report Available
8 to 15 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
82657