Congenital disorder of glycosylation, type ib

Diagnosis and Testing

How do I get tested for congenital disorder of glycosylation type 1B?

Testing for congenital disorder of glycosylation type 1B 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-Ib 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 .

MPI mannose phosphate isomerase. Genetic Testing Registry. http://www.ncbi.nlm.nih.gov/gtr/genes/4351/

Congenital Disorder of Glycosylation, Type Ib; CDG1B. OMIM. http://www.omim.org/entry/602579

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