Disorders

Tyrosinemia Type II

Synonym(s): Keratosis Palmoplantaris with Corneal Dystrophy, Oculocutaneous Tyrosinemia, Oregon Type Tyrosinemia, Richner-Hanhart Syndrome, TAT Deficiency, Tyrosine Aminotransferase Deficiency, Tyrosine Transaminase Deficiency

OMIM

Gene	Locus	Protein
TAT	16q22.1	Tyrosine aminotransferase

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA	• Analyte
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA	• Analyte
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA	• Analyte
Dayton Children's Medical Center, Molecular and Biochemical Genetics Laboratory - Dayton, OH, USA	• Analyte
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA	• Analyte
GeneDx - Gaithersburg, MD, USA
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Biochemical Genetics - New York, NY, USA	• Analyte
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA	• Analyte
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA	• Analyte
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA	• Analyte
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA	• Analyte
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA	• Analyte
University of Maryland, Pediatric Biochemical Genetics Laboratory - Baltimore, MD, USA	• Analyte
University of Miami Miller School of Medicine, Biochemical Genetics Diagnostic Laboratory - Miami, FL, USA	• Analyte
Yale University School of Medicine, Biochemical Disease Detection Laboratory - New Haven, CT, USA	• Analyte

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.