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)
Acetyl CoA:glucosamine N-acetyltrasferase
|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 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.
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.