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.
D-Bifunctional Protein Deficiency
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 D-bifunctional protein 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.
D-bifunctional protein deficiency is an inherited condition that leads to neurodegeneration beginning in early infancy. Newborns with D-bifunctional protein deficiency have poor muscle tone, seizures, structural brain differences, and characteristic facial features. Most infants are unable to acquire developmental skills. Some infants may achieve developmental milestones; however, they experience a gradual loss of these skills within a few months. Most affected individuals die before two years old.
Prognosis is considered poor. Most affected individuals die before the age of two.
There is no cure for D-bifunctional protein deficiency. Treatment is mostly symptomatic.
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