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) |
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| Enzyme Names | α-iduronidase (Hurler syndrome, MPS I) Iduronate-2-sulfatase (Hunter syndrome, MPS II) Heparan-N-sulfatase (Sanfilippo syndrome Type A, MPS IIIA) N-acetyl-α-glucosaminidase (Sanfilippo syndrome Type B, MPS IIIB) Acetyl CoA:glucosamine N-acetyltrasferase (Sanfilippo syndrome Type C, MPS IIIC) N-acetyl glucosamine-6-sulfatase (Sanfilippo syndrome Type D, MPS IIID) N-acetyl galactosamine-6-sulfatase (Morquio syndrome Type A, MPS IVA) β-galactosidase (Morquio syndrome Type B, MPS IVB) Arylsulfatase B (Maroteaux Lamy syndrome, MPS VI) β-glucuronidase (Sly syndrome, MPS VII) |
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| Methodology | Measurement of enzymes will employ 4-methylumbelliferyl substrate | |
| 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 Sanfilippo B which requires plasma. Send blood in two green top tubes and plasma will be isolated for Sanfilippo B enzyme testing. All panel enzymes can also be measured from cultured fibroblasts. | |
| Transport | Leukocyte samples should arrive within 24 of blood draw. 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 | 14 days Cell culture can take 1-4 weeks and may lengthen turnaround time. |
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| 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 | |
Form Needed
Download biochem-lab-request-form.pdf
Have Questions Need Support?
Contact our Laboratory Representative for assistance.
Kellie King, MS, CGC
Biochemical Lab
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.