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 or donor would both have to be carriers of familial dysautonomia 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.
Familial dysautonomia is an inherited nerve disorder that typically presents at birth and progresses over time. This condition affects cells responsible for involuntary actions, such as digestion, breathing, production of tears, and regulating blood pressure and body temperature. The condition also affects the senses, including taste and the perception of pain, heat, and cold. Individuals with familial dysautonomia have gastrointestinal dysfunction, vomiting crises, recurrent pneumonia, cardiovascular instability, and developmental delays. Approximately one-third of affected individuals have intellectual disability. The disease is associated with a high incidence of sudden death caused by lung infections, sepsis, and unexplained causes.
With improved supportive treatment, lifespan has increased. Approximately 60% of individuals with familial dysautonomia survive past age 20.
Treatment is focused on managing symptoms of the disease as there is no cure.
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