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, PMM2-Related
What Your Test Results Mean:
Carriers are not expected to show symptoms of congenital disorder of glycosylation, PMM2-related. You and your partner or donor would both have to be carriers of congenital disorder of glycosylation, PMM2-related 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.
Congenital disorder of glycosylation, PMM2-related (CDG-PMM2) is an inherited metabolic condition that affects multiple organ systems of the body. Symptoms of CDG-PMM2 usually start shortly after birth. Infants can experience global brain dysfunction, poor muscle tone, abnormal eye movement, and psychomotor delays. More severe cases of CDG-PMM2 present with hydrops fetalis, a fatal condition in which excess fluid builds up in the body before birth. Affected individuals with CDG-PMM2 who survive infancy may have intellectual disability, may not be able to walk independently and may experience stroke-like episodes involving temporary paralysis.
Prognosis is variable. Approximately 20% of infants with CDG-PMM2 die within the first year of life due to severe infections, liver insufficiency, or cardiomyopathy. Some affected individuals may live into adulthood. Physical and occupational therapy can improve the quality of life.
Treatment is symptomatic as there is no cure for CDG-PMM2. Treatment includes gastrostomy tubes or a specialized diet during infancy to ensure maximum calorie intake. Early intervention, physical therapy, occupational therapy, and speech therapy can also be beneficial for affected individuals. Medications may also be prescribed to help treat seizures.
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