beta-glucuronidase
Sly Syndrome (MPS VII): Beta-glucuronidase Enzyme Analysis
Key Information
Lab:
TAT:
14 days
Price:
$200
CPT Code(s):
82657
Test Code:
BBGCL, BBGCD, BBGCF
Sly Syndrome (MPS VII): Beta-glucuronidase Enzyme Analysis
This test quantitatively measures beta-glucuronidase enzyme activity and can be used as a first-tier test for patients with a clinical suspicion of Sly syndrome (Mucopolysaccharidosis VII, MPS VII). Confirming deficienty enzyme activity is considered the gold standard in diagnosis and can also be used to support the interpretation of GUSB variants.
Note: Sending fibroblasts will extend turnaround to 28 days.
Sly syndrome (MPS VII)
Clinical Information
Sly syndrome, or mucopolysaccharidosis type VII, is a lysosomal storage disorder resulting from deficient enzyme activity of beta-glucuronidase. This autosomal recessive disorder has a highly variable phenotype. The most severe form presents prenatally as hydrops fetalis. Patients with a less severe phenotype present with hepatomegaly, skeleltal anomalies and coarse facies. The degree of cognitive impairment varies with the mildest cases surviving into adulthood.
Technical Information
4-methylumbelliferyl (4-MU) substrate (leukocytes, fibroblasts) or Liquid chromatography-tandem mass spectrometry (LC-MS/MS) (DBS)
Specimen Requirements
DBS: Approximately 75 uL of blood should be applied to each of the five circles on filter paper dried blood spot card. Allow blood to dry for at least 4 hours before shipping.
Fibroblasts: Tissue sample should be stored in sterile culture media; cultured fibroblasts should be sent in two T25 flasks. Do NOT place tissue in formalin or formaldehyde. Do not freeze tissue.
Leukocytes: Minimum of 5 mL whole blood (7-10 mL preferred) collected in a sodium heparin tube
Transport Instructions
DBS: Ship DBS card at ambient temperature.
Fibroblasts: Ship tissue sample or cultured fibroblasts at ambient temperature
Leukocytes: Whole blood should be shipped at ambient temperature. If leukocytes are being isolated at another laboratory, the pellet should be frozen after specimen processing and shipped frozen on dry ice.
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC