Mucopolysaccharidosis Enzyme Panel

Disease names Hurler syndrome (MPS I)
Hunter syndrome (MPS II)
Sanfilippo syndrome, Types A,B,C and D (MPS IIIA, B, C and D)
Morquio syndrome, Types A and B (MPS IVA and B)
Maroteaux Lamy syndrome (MPS VI)
Sly syndrome (MPD VII)
Enzyme Names α-iduronidase
Iduronate-2-sulfatase
Heparan-N-sulfatase
N-acetyl-α-glucosaminidase
Acetyl CoA:glucosamine N-acetyltrasferase
N-acetyl glucosamine-6-sulfatase
N-acetyl galactosamine-6-sulfatase
β-galactosidase
Arylsulfatase B
β-glucuronidase
Associated Tests Each enzyme test can also be ordered individually. We also offer enzyme panels for Sanfilippo syndrome Types A-D and Morquio syndrome Types A and B. Molecular testing is also available for Hurler syndrome, Hunter syndrome, Sanfilippo syndrome Type A, Sanfilippo syndrome Type B, Sanfilippo syndrome Type C, Sanfilippo Type D and Maroteaux-Lamy.
Specimen Requirements Leukocytes can be used for all assays with the exception of Hunter syndrome and Sanfilippo B which require plasma. Whole blood should be collected in a sodium heparin (green top) tube. Send blood in two green top tubes (7-10 ml).

All panel enzymes can also be measured from cultured fibroblasts.
Transport Enzyme samples must arrive within 24 hours of blood draw. Ship overnight at room temperature. Specimens should be sent at ambient temperature. Do not freeze or allow the sample to get above room temperature during shipment.

Fresh tissue for culture should be sent by courier or overnight delivery at room temperature. Cultured fibroblasts should be sent in 2 T-25 flasks.
Turnaround time 21 days
Cell culture can take 1-4 weeks and may lengthen turnaround time.
CPT Codes 82657(x5)
Cost $1000
Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS or Tim Wood, PhD at 1-800-473-9411

Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

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