alpha-iduronidase, Iduronate-2-sulfatase, Heparan-N-sulfatase, N-acetyl-alpha-glucosaminidase, Acetyl-CoA:glucosamine N-acetyltransferase, N-acetylglucosamine-6-sulfatase, N-acetylgalactosamine-6-sulfatase, beta-galactosidase, Arylsulfatase B, beta-glucuronidase
Mucopolysaccharidosis (MPS) Enzyme Panel
Mucopolysaccharidosis (MPS) Enzyme Panel
This panel quantitatively measures the activity of 10 enzymes in patients with a diagnosis or clinical suspicion associated of mucopolysaccharidosis.
Hurler syndrome (MPS I), Hunter syndrome (MPS II), Sanfilippo syndrome A (MPS IIIA), Sanfilippo syndrome B (MPS IIIB), Sanfilippo syndrome C (MPS IIIC), Sanfilippo syndrome D (MPS IIID), Morquio syndrome A (MPS IVA), GM1 gangliosidosis (Morquio B), Maroteaux-Lamy syndrome (MPS VI), Sly syndrome (MPS VII)
Clinical Information
Mucopolysaccharidoses are a group of inherited lysosomal storage diseases (LSDs), each with a distinctive phenotype and a progressive course due to a specific enzyme deficiency. These enzymes are involved in the degradation of specific glycosaminoglycans.
Technical Information
4-methylumbelliferyl (4-MU) substrate and p-Nitrocatechol sulfate substrate (spectrophotometry)
Specimen Requirements
Whole Blood: A minimum of 5 mL (preferably 7-10 mL) whole blood collected in a sodium heparin tube.
Transport Instructions
Whole Blood: Whole blood should be shipped at ambient temperature.
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