21 days
82657 x5
$1,000
The mucopolysaccharidoses are a group of inherited lysosomal storage disorders (LSDs), each with a distinctive phenotype and a progressive course due to a specific enzyme deficiency. These enzymes are involved in the degradation of specific glycosaminoglycans.
Quantifies level of each enzyme via the 4-methylumbelliferyl substrate
Enzyme activity can be measured in whole blood or fibroblasts. Please send 5-7 ml of whole blood in a green top (sodium heparin) tube.
Whole blood samples should be shipped at ambient temperature and must arrive at the laboratory the next day. Cultured fibroblasts can be sent overnight at room temperature.
Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC