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). https://rarediseases.info.nih.gov/gard/9830/mpi-cdg-cdg-ib/resources/1
Congenital Disorder of Glycosylation, Type Ib; CDG1B. OMIM. http://www.omim.org/entry/602579