Mucopolysaccharidosis Enzyme Panel

Disease names Hurler syndrome (MPS I)
Hunter syndrome (MPS II)
Sanfilippo syndrome, Types A, B, C and D (MPS IIIA, IIIB, IIIC and IIID)
Morquio syndrome, Types A and B (MPS IVA and IVB)
Maroteaux-Lamy syndrome (MPS VI)
Sly syndrome (MPD VII)
Enzyme Names α-iduronidase
Acetyl CoA:glucosamine N-acetyltrasferase
N-acetyl glucosamine-6-sulfatase
N-acetyl galactosamine-6-sulfatase
Arylsulfatase B
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 , Maroteaux-Lamy syndrome, and Sly syndrome.
Specimen Requirements Leukocytes can be used for all assays with the exceptions of Hunter and Sanfilippo B which require plasma. The full panel requires 7-10 ml of whole blood collected in 2 sodium heparin (green top) tubes.

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 one of our This email address is being protected from spambots. You need JavaScript enabled to view it. 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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