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.
FKTN-Related Walker-Warburg Syndrome
What Your Test Results Mean:
Carriers typically show no symptoms of FKTN-related WWS; however, carriers are at an increased risk of having a child with FKTN-related WWS. Risk for current or future pregnancies is dependent on your partner’s carrier status.
Walker-Warburg syndrome is the most severe congenital muscular dystrophy. FKTN-related WWS is characterized by brain malformations and eye abnormalities, hypotonia, muscle weakness, developmental delay, and occasional seizures. Individuals with FKTN-related WWS are not able to properly produce the protein fukutin. Without fukutin, another protein called alpha-dystroglycan, essential for the development of muscle fibers and neural cells, cannot function properly, leading to the severe symptoms of the disease. FKTN-related WWS is typically lethal within the first few months of life.
Treatment of individuals with FKTN-related WWS typically includes supportive care. Most individuals do not live beyond the age of three.
How the Genetics Works:
There are several genes known to cause Walker-Warburg syndrome. The clinical features of FKTN-related WWS can be explained by pathogenic variants in the FKTN gene. In general, individuals have two copies of the FKTN gene. Carriers of FKTN-related WWS have a single variant in one copy of the FKTN gene while individuals with FKTN-related WWS have variants in both copies of their genes, one inherited from each parent.
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