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.
What Your Test Results Mean:
Carriers typically show no symptoms of hereditary thymine-uraciluria; however, carriers are at an increased risk of having a child with hereditary thymine-uraciluria. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.
Hereditary thymine-uraciluria is an inherited condition that prevents the body from breaking down the nucleotides thymine and uracil. This disease can vary drastically in severity: most affected individuals have no symptoms, while a few have mild to severe neurological problems that may include seizures, intellectual disability, delayed motor skills, and/or autism. Regardless of the individual’s symptoms, every affected person must avoid the chemotherapy drug 5-fluorouracil and other fluoropyrimidines. Because the body cannot break down these drugs, the fluoropyrimidines are toxic and life threatening to people with hereditary thymine-uraciluria. There is no cure or specific treatment for hereditary thymine-uraciluria, but symptoms such as seizures can be addressed as they arise.
How the Genetics Works:
Hereditary thymine-uraciluria is an autosomal recessive disorder caused by pathogenic variants in the DPYD gene. In general, individuals have two copies of the DPYD gene. Carriers of hereditary thymine-uraciluria have a single variant in one copy of the DPYD gene while individuals with hereditary thymine-uraciluria have variants in both copies of their genes, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.
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