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.
Neuronal Ceroid Lipofuscinosis, PPT1-Related
What Your Test Results Mean:
Carriers typically show no symptoms. Risk for current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor for 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 and their own personal clinical management.
Neuronal ceroid lipofuscinosis, PPT1-related (NCL) is an inherited disorder caused by defects in the process that helps break down granules made of fat and protein called lipopigments. As a result, lipopigments accumulate in a person’s tissues and lead to tissue degeneration over time. This leads to cognitive and motor function decline, seizures, loss of vision, and reduced lifespan. There are several forms of NCL, largely differentiated by the gene responsible and the age at which symptoms begin. Variants in the PPT1 gene typically result in the infantile or juvenile form of NCL.
Prognosis is generally unfavorable. The severity of neuronal ceroid lipofuscinosis, PPT1-related is variable and depends on the specific mutation of PPT1. Most patients show symptoms within the first two years of life. Development slows down which affects motor skills, and there may be low muscle tone, decelerating head growth, and seizures. Sleep disturbances and irritability are common. Vision loss generally occurs between 16 and 23 months of age. Mobility and language skills are lost as vision loss progresses. Children will eventually enter a vegetative state and become totally dependent on others to care for them. Death usually occurs in childhood for children with infantile NCL. Among those with juvenile form of NCL, death usually occurs between one’s late teens to thirties.
There is no specific treatment for NCL, but symptomatic treatment can be used along with counseling and prenatal care. Care focuses on behavioral problems and depression. Physical and occupational therapy help retain physical ability.
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