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:
Test results indicate that you are a carrier of argininosuccinic aciduria (ASA). Carriers are not expected to show symptoms. You and your partner would both have to be carriers of ASA 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.
Argininosuccinic aciduria is an inherited condition caused by a urea cycle defect that causes ammonia to accumulate in the blood. Symptoms typically present in infancy and may include lethargy or unwillingness to eat and a poorly controlled breathing rate or body temperature. Some babies may experience seizures, unusual body movements, and may go into a coma. Intellectual and developmental delays may also occur.
Prognosis is typically poor. Early diagnosis and treatment are associated with best prognosis; however, severity of the disease is variable, mortality is high, and neurological damage is frequent.
Long-term treatment includes dietary restriction of protein and supplementation of arginine. For individuals who are non-responsive to dietary changes, oral nitrogen scavenging therapy can be considered. Orthotopic liver transplantation is considered only in patients with severe cases of this disease.
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