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.
Glucose-6-Phosphate Dehydrogenase Deficiency
What Your Test Results Mean:
Test results indicate that you are a carrier of glucose-6-phosphate dehydrogenase (G6PD) deficiency. Female carriers typically show no symptoms; however, female carriers have an increased chance to have a child with G6PD deficiency. Consultation with a genetic counselor for a more detailed risk assessment is recommended.
Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.
G6PD is the most common of all clinically significant enzyme defects. The enzyme (glucose-6-phosphate dehydrogenase) deficiency causes the destruction of red blood cells faster than the body can replace them. Certain triggers can lead to the increased destruction of red blood cells. These triggers include certain medications, infections, foods (e.g. fava beans), and stress. When a person with G6PD deficiency is exposed to these triggers, they can experience hemolytic anemia. Symptoms of hemolytic anemia include paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, enlarged spleen, fatigue, shortness of breath, and rapid heart rate.
Prognosis is generally favorable. Individuals who experience a hemolytic episode usually fully recover with adequate treatment. With proper management, individuals with G6PD deficiency may never show symptoms and lead a normal life.
Management of the disease is generally focused on avoiding triggers such as infection, certain drugs, and foods that induce hemolytic anemia. In severe episodes of hemolytic anemia, individuals may require blood transfusions.
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