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
5-7 ml of whole blood in a green top, sodium heparin tube.
Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day.
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