This test is indicated for patients whose clinical evaluations are suggestive of glycoprotein storage or mucopolysaccharidosis diseases. The test detects glycoprotein degradation defects.
Interpretive report provided.
7 - 10 days
- Oligosaccharidosis and Congenital Disorders of Glycosylation
Collect urine in a sterile cup. The first am void is preferred. Aliquot to a screw capped plastic tube if possible. Send frozen.
Test sent to Emory Genetics Laboratory.