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The Metabolic Laboratory of the Greenwood Genetic Center
offers a Mucopolysaccharidosis (MPS) Panel analyzing the following ten enzymes:
- α-iduronidase (Hurler syndrome, MPS I)
- Iduronate-2-sulfatase (Hunter syndrome, MPS II)
- Heparin sulfamidase (Sanfilippo syndrome Type A, MPS IIIA)
- N-acetyl-α-glucosaminidase (Sanfilippo syndrome Type B,
MPS IIIB)
- Acetyl CoA:glucosaminidase N-acetyltrasferase (Sanfilippo
syndrome Type C, MPS IIIC)
- N-acetyl glucosamine-6-sulfatase (Sanfilippo syndrome
Type D, MPS IIID)
- 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)
Each enzyme can also be ordered individually. We also have
panels for Sanfilippo syndrome Types A-D and
Morquio syndrome Types A and B.
Specimen required: 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. Cultured fibroblasts should be sent in 2 T-25 flasks.
Standard of Analysis: Measurement of enzymes will
employ 4-methylumbelliferyl substrate
Time required: If cell culture is required, analysis
should be completed in 3-4 weeks. If cell culture is not required, analysis
should be available within 1 week of sample receipt.
Reports: Written reports with interpretation are mailed
to the referring physician. When an abnormality is detected the report will also
be telephoned to the referring physician.
CPT Codes: 82657(x5)
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