Disorders

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Synonym(s): HHH Syndrome, Mitochondrial Ornithine Transporter Deficiency

Gene	Locus	Protein
SLC25A15	13q14	Mitochondrial ornithine transporter 1

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
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA	• Analyte
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA	• Analyte
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
GeneDx - Gaithersburg, MD, USA
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada	• Targeted mutation analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Biochemical Genetics - New York, NY, USA	• Analyte
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 of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA	• Analyte
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, 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.