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 are not expected to show symptoms. You and your partner or donor would both have to be carriers of galactokinase deficiency 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.
Galactokinase deficiency is an inherited metabolic disorder that prevents the body from processing galactose, a simple sugar, into energy. It is typically considered a mild type of galactosemia as affected children who are not treated with dietary therapy develop cataracts in the eyes, but otherwise they typically do not have long-term health problems. Occasionally, a child with galactokinase deficiency will have pseudotumor cerebri, a condition which mimics the symptoms of a large brain tumor when no brain tumor is present.
Prognosis is good with treatment. Individuals who receive an early diagnosis and treatment can reduce the complications of vision problems.
Treatment involves a lifelong, galactose-free diet (avoiding all milk products) beginning as early in life as possible. Vitamin supplementation with calcium, vitamin K and vitamin D is typically recommended for bone health.
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