Disorders

Tyrosinemia Type I

Synonym(s): FAH Deficiency, Fumarylacetoacetase Deficiency, Fumarylacetoacetate Hydrolase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia Type I

GeneReview OMIM

Gene	Locus	Protein
FAH	15q25.1	Fumarylacetoacetase

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Analyte
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA	• Analyte
CeGaT GmbH - Tuebingen, Germany
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA	• Analyte
Centogene AG, Rare Disease Company - Rostock, Germany	• Analyte
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague, Czech Republic
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
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA	• Analyte
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Targeted mutation analysis
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA	• Analyte
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of select exons
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel
Hopital Saint-Francois d'Assise du CHUQ, Laboratoire de Diagnostic Moleculaire - Quebec City, Canada	• Targeted mutation analysis
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
Opmedic Group Inc., Genetic Laboratory - Mont-Royal, Canada	• Targeted mutation analysis
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
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA	• Targeted mutation analysis • Analyte
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Analyte
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA	• Analyte
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Analyte
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands
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
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA	• Analyte
University of Turku, Diagnostic DNA Laboratory - Turku, Finland	• Targeted mutation analysis
University of Washington, Molecular Development Laboratory - Seattle, WA, USA
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.