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.
Familial Hyperinsulinism, ABCC8-Related
What Your Test Results Mean:
Test results indicate that you are a carrier of familial hyperinsulinism, ABCC8- related. Some carriers show no symptoms of this condition, while others have symptoms ranging from congenital hyperinsulinism to type 2 diabetes mellitus in adulthood. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment. We recommend that you share this information with all of your health care providers. 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.
Familial hyperinsulinism is an inherited disorder characterized by hypoglycemia (low blood sugar). Individuals with familial hyperinsulinism release insulin into the bloodstream even in the absence of glucose. In infants and young children, these episodes of low blood sugar are characterized by a lack of energy, irritability, and difficulty feeding. Repeated episodes of low blood sugar increase the risk for seizures, intellectual disability, breathing difficulties, and coma.
Carriers for familial hyperinsulinism may be at increased risk for persistent hyperinsulinemic hypoglycemia in childhood. Additionally, it may be an important cause of dominantly inherited early-onset diabetes mellitus in adults.
Prognosis with treatment is variable. In severe cases, surgical removal of parts of the pancreas is required to control the release of insulin. However, this surgery increases the risk of developing diabetes and neurological deficits from episodes of low blood sugar. In mild cases, patients typically respond well to medication. Even with treatment, some individuals may have some degree of brain damage or learning disabilities. Overall, early diagnosis and immediate treatment are associated with the best prognosis.
There are two options for treatment of familial hyperinsulinism, medical therapy and surgical intervention. About 50% of children respond to medical therapy, while the other half require surgery for a partial or near total pancreatectomy.
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