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.
What Your Test Results Mean:
Carriers are not expected to show symptoms. You and your partner would both have to be carriers of aspartylglucosaminuria 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.
Aspartylglucosaminuria is an inherited disorder where individuals experience a decline in mental functioning over time. Infants appear healthy at birth, with signs and symptoms showing up within the first 2-3 years of life. Additional signs and symptoms include coarse facial features, behavioral problems, an intellectual disability, and skeletal abnormalities. Adults with aspartylglucosaminuria can also experience seizures and difficulty with movement.
Prognosis is considered unfavorable as the decline in mental functioning is progressive and individuals typically live until mid-adulthood.
Treatment for aspartylglucosaminuria is symptomatic; there is currently no cure. Bone marrow transplant has been attempted with mixed results and enzyme replacement therapy is not yet clinically available.
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