alpha-iduronidase, Iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase, Arylsulfatase B, beta-glucuronidase, beta-galactosidase, N-acetyl-alpha-glucosaminidase
Mucopolysaccharidosis (MPS) Enzyme Panel (DBS)
Mucopolysaccharidosis (MPS) Enzyme Panel (DBS)
This panel quantitatively measures the activity of 7 enzymes in patients with a diagnosis or clinical suspicion of mucopolysaccharidosis. Each enzyme can also be ordered individually. Please note that this panel does not include analysis for Sanfilippo syndrome types A, C, or D.
Hurler syndrome (MPS I), Hunter syndrome (MPS II), Morquio syndrome A (MPS IVA), GM1 gangliosidosis (Morquio B), Maroteaux-Lamy syndrome (MPS VI), Sly syndrome (MPS VII), Sanfilippo syndrome B (MPS IIIB)
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 Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
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.
Transport Instructions
DBS: Ship DBS card 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