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.
Megalencephalic Leukoencephalopathy with Subcortical Cysts
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 megalencephalic leukoencephalopathy 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.
Megalencephalic leukoencephalopathy with subcortical cysts type 1 is an inherited brain disorder that causes progressive neurological complications. Affected individuals are born with an enlarged brain (megalencephaly) and abnormalities in the brain’s white matter (myelin, which insulates and protects nerve fibers). Additionally, they may develop cysts in the brain that can grow in size and number. They may have mild developmental delays early in life, but over time the white matter wastes away causing increased muscle spasticity, difficulty coordinating movements, and mild to moderate intellectual disability. Some affected individuals also experience seizures, poor muscle tone, and difficulties talking and swallowing.
Prognosis is unfavorable. Affected individuals typically lose the ability to walk and are wheelchair bound by adolescence. Lifespan varies but is typically reduced.
There is no cure for megalencephalic leukoencephalopathy and treatment is symptomatic. Minor head trauma can lead to seizures, temporary motor deterioration, or coma. Due to this risk, affected individuals should wear a helmet when there is risk for head trauma.
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