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 I
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 I 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 I is an inherited metabolic disorder that often presents in infancy. The condition is characterized by failure to thrive, diarrhea, vomiting, jaundice, and an increased tendency to bleed. Infants with this condition may also have a cabbage-like odor. Tyrosinemia type I can potentially lead to liver and kidney failure and affect the nervous system. Affected individuals also have an increased risk for liver cancer.
Prognosis is poor if the disease is left untreated, and typically fatal by age 10. However, with prompt and appropriate treatment and management, prognosis can be good. Treated individuals can have a normal life span with typical growth, bone structure, and improved liver and kidney function.
Treatment consists of dietary restriction of tyrosine and daily nitisinone (an FDA-approved drug) intake. 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.
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