What Does NxGen MDx Screen For?
We screen for up to 120 genetic disorders that can affect your pregnancy, the health of your baby, and your family's future. You can learn more about our various screens — and which sets of screens (or "panels") align with where you are in your reproductive journey.
Congenital Disorder of Glycosylation, MPI-Related
What Your Test Results Mean:
Test results indicate that you are a carrier of congenital disorder of glycosylation, MPI-related (CDG-MPI). Carriers are not expected to show symptoms. You and your partner or donor would both have to be carriers of CDG-MPI for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.
Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.
CDG-MPI is an inherited metabolic condition that affects multiple organ systems of the body. Signs and symptoms typically appear during infancy. Infants may experience extremely low blood sugar, cyclic vomiting, failure to grow, chronic diarrhea, and impaired blood clotting. Unlike other types of CDG, affected individuals that survive infancy typically do not have intellectual disability.
Prognosis is considered favorable with treatment, though outcomes depend on disease severity and response to medication. If left untreated, CDG-MPIcan be fatal.
Treatment of CDG-MPIconsists of lifelong and daily oral supplements of mannose, a sugar. Mannose improves many of the symptoms present in this condition.
Talk to a Genetic Counselor
As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.Discuss Your Screening Results