Congenital disorder of glycosylation, type ib

Diagnosis and Testing

I had a negative screening test for congenital disorder of glycosylation type 1B. Does that mean I am no longer at risk?

Screening tests are not perfect. Some carrier screening tests for congenital disorder of glycosylation type 1B (CDG-Ib) only test for the most common mutation in individuals of European ethnicity. That means there is still a risk that you carry a mutation that was not tested, particularly if you are not of European ethnicity. If you have a family history of congenital disorder of glycosylation type 1B, or if there is any reason you suspect you may be a carrier, you should speak to your doctor or genetic counselor about further testing.

Genetic and Rare Disease Information Center. MPI-CDG (CDG-1B).

Congenital Disorder of Glycosylation, Type Ib; CDG1B. OMIM.

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