Congenital disorder of glycosylation, type ia
Diagnosis and Testing
How do I get tested for congenital disorder of glycosylation type 1A?
Testing for congenital disorder of glycosylation type 1A can be ordered by your doctor or genetic counselor. There is genetic testing and biochemical testing that can be performed. There are many laboratories that offer genetic testing for the condition. It involves either a blood or saliva sample. Results take about 4-12 weeks depending on the laboratory.
The best person to figure out whether an individual has CDG-Ia is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .
PMM2 phosphomannomutase 2. Genetic Testing Registry. http://www.ncbi.nlm.nih.gov/gtr/genes/5373/