Tyrosinemia Type I

Diagnosis and Testing

How do I get tested for Tyrosinemia Type I?

Testing for Tyrosinemia type I often begins with urine testing to look for succinylacetone. People who have succinylacetone in their urine have confimatory testing by looking for changes in the FAH gene.

To find a genetic professional near you who can discuss genetic testing, visit the following two sites: A listing of medical geneticists can be found at the American College of Medical Geneticists website (www.acmg.net) and genetic counselors can be found on the National Society of Genetic Counselors website: www.nsgc.org.

References
  • Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD
  • http://www.ncbi.nlm.nih.gov/books/NBK1515/
Show More Content Like This

More Diagnosis and Testing Content

Is there newborn testing for Tyrosinemia Type I?

Is there more than one type of test for Tyrosinemia Type I?

Who else in my family should I test for Tyrosinemia Type I?

Does it matter if you test blood versus saliva versus a biopsy for Tyrosinemia Type I?

Is there newborn testing for Tyrosinemia Type I?

Tyrosinemia Type I is current on the recommended uniform panel for newborn screening. All 50 states screen newborns for this disease by measuring blood tyrosine or succinylacetone levels. Newborns that screen positive are immediately sent for further testing and started on treatment.

References
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-i
Is there more than one type of test for Tyrosinemia Type I?

Urine samples allow for biochemical testing. People with Tyrosinemia Type I who are untreated will have high levels of succinylacetone in their urine. Those who have succinylacetone in their urine have their diagnosis confirmed by FAH gene testing by a blood test.

To find a genetic professional near you who can discuss genetic testing, visit the following two sites: A listing of medical geneticists can be found at the American College of Medical Geneticists website (www.acmg.net) and genetic counselors can be found on the National Society of Genetic Counselors website: www.nsgc.org.

References
  • Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD
  • http://www.ncbi.nlm.nih.gov/books/NBK1515/
Who else in my family should I test for Tyrosinemia Type I?

Siblings of people with Tyrosinemia Type I have a 25% chance of also having Tyrosinemia Type I.

The parents of people with Tyrosinemia Type I are carriers (have one gene change).

Children of people with Tyrosinemia Type I will be carriers (have one gene change).

References
  • Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD
  • http://www.ncbi.nlm.nih.gov/books/NBK1515/
Does it matter if you test blood versus saliva versus a biopsy for Tyrosinemia Type I?

It does not matter what sample type is used for the gene testing; however, blood is typically used when testing for Tyrosinemia Type I.

References
  • Lisa Sniderman King, MSc, CGC, Cristine Trahms, MS, RD, and C Ronald Scott, MD
  • http://www.ncbi.nlm.nih.gov/books/NBK1515/

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me