Affinity purification and LC-MS analysis
A serum or plasma N-glycan profile can be used to identify most subtypes of CDG type II, combined type I and type II, and multiple glycosylation disorders, such as various of CDG complex deficiencies (Conserved Oligometric Golgi).
Interpretive report provided.
5 - 7 days
Draw specimen in green top (sodium heparin) tube. Immediately spin and aliquot plasma into a screw capped plastic aliquot. Send frozen.
Test sent to Emory Genetics Laboratory.