Disorders

Hyperoxaluria, Primary, Type 1

Synonym(s): Alanine-Glyoxylate Aminotransferase Deficiency, Glycolic Aciduria, Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

GeneReview OMIM

Gene	Locus	Protein
AGXT	2q37.3	Serine--pyruvate aminotransferase

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany	• Analyte
Centre de Biologie Est - Hospices Civils de Lyon, Maladies hrditaires du mtabolisme - Bron cedex, France
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA	• Enzyme assay
Cologne University, Institute of Human Genetics - Cologne, Germany
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
diagenos - Osnabrueck, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of select exons
GGA - Galil Genetic Analysis - Kazerin, Israel
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA	• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA	• Analyte
Praxis fuer Humangenetik Wien - Vienna, Austria
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA	• Analyte
UCL Hospitals, Clinical Biochemistry Laboratory - London, Great Britain	• Linkage analysis • Analyte • Enzyme assay
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA	• Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands	• Analyte • Enzyme assay

^* 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.