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.
Tyrosinemia Type II
What Your Test Results Mean:
Carriers are not expected to show symptoms. You and your partner would both have to be carriers of tyrosinemia type II 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.
Tyrosinemia type II is an inherited metabolic disorder that often presents in early childhood. This condition can affect the eyes, skin, and intellectual development. Symptoms include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, poor vision, and painful skin lesions on the palms and soles (palmoplantar hyperkeratosis). About half of individuals have intellectual disability.
Treatment may not be effective for all individuals. The effect on life expectancy remains unknown, and survival into adulthood has been reported.
There is no cure for tyrosinemia type II. Treatment consists of a low-protein diet and medical food. A metabolic specialist and dietitian typically manage care of individuals with the disorder. The earlier the disease is recognized and treated, the less damage is done to the body and the better the prognosis. Treatment may not be effective for all individuals.
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