Disorders

Molybdenum Cofactor Deficiency

Gene	Locus	Protein
MOCS2	5q11	Molybdopterin synthase catalytic subunit

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Analyte
CeGaT GmbH - Tuebingen, Germany
Centre de Biologie Est - Hospices Civils de Lyon, Maladies hrditaires du mtabolisme - Bron cedex, France	• Analyte • Enzyme assay
Cologne University, Institute of Human Genetics - Cologne, Germany
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA	• Analyte
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Analyte
University of Goettingen, Institute of Human Genetics - Goettingen, Germany

^* 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.