Disorders

Lesch-Nyhan Syndrome

Synonym(s): HGPRT Deficiency, HPRT Deficiency, Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency, Lesch-Nyhan Disease

GeneReview OMIM

Gene	Locus	Protein
HPRT1	Xq26.2	Hypoxanthine-guanine phosphoribosyltransferase

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Analyte • Enzyme assay
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
National Health Laboratory Services, Inherited Metabolic Diseases - Cape Town, South Africa
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA	• 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.