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.
Glycogen Storage Disease Type III
What Your Test Results Mean:
Test results indicate that you are a carrier of glycogen storage disease type III. Carriers are not expected to show symptoms. You and your partner or donor would both have to be carriers of glycogen storage disease type III 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.
Glycogen storage disease type III is an inherited metabolic muscle disorder caused by lack of the glycogen debrancher enzyme. The missing enzyme causes abnormal glycogen to build up in the muscles and liver. Symptoms include an enlarged liver, low blood sugar, and growth retardation. Later in life, muscle weakness and cardiomyopathy (heart muscle weakness) may develop.
Prognosis is typically mild. Individuals with glycogen storage disease type III are at an increased risk for infant fatalities due to seizures caused by low blood sugar. With proper management, life expectancy is not impacted.
Glycogen storage disease type III has no cure, but high-protein diets and physical therapy may alleviate symptoms.
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