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, CLN5-Related
What Your Test Results Mean:
Test results indicate that you are a carrier of neuronal ceroid lipofuscinosis, CLN5-related. Carriers typically show no symptoms. You and your partner would both have to be carriers of neuronal ceroid lipofuscinosis, CLN5-related 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.
Neuronal ceroid lipofuscinosis, CLN5-related is an inherited disease that causes degeneration of the brain, leading to progressive loss of mental and motor skills. Neuronal ceroid lipofuscinosis, CLN5-related typically causes blindness and leads to early death. Symptoms begin between the ages of four and seven, usually with clumsiness, progressing to vision loss, seizures, developmental delays, muscle stiffness, balance problems and involuntary movements.
Prognosis is generally unfavorable. Neuronal ceroid lipofuscinosis, CLN5-related causes blindness and progressive loss of mental and motor functions. Death usually occurs between 10 and 30 years of age.
Treatment is supportive as there is no cure for neuronal ceroid lipofuscinosis, CLN5-related. 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