Disorders

Lowe Syndrome

Synonym(s): Lowe Oculocerebrorenal Syndrome, Oculocerebrorenal Syndrome, Oculocerebrorenal Syndrome of Lowe

Gene	Locus	Protein
OCRL	Xq25	Chloride channel protein 5

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Enzyme assay
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Centre Hospitalier Universitaire de Grenoble, Biochimie Genetique et Molculaire - Grenoble, France	• Linkage analysis • Protein analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Sequence analysis of select exons
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Sequence analysis of select exons
Medgene, MedGene - Bratislava, Slovakia
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Praxis fuer Humangenetik Wien - Vienna, Austria
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Linkage analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain

^* 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.