Disorders


 

Molybdenum Cofactor Deficiency


 

OMIM

GeneLocusProtein
MOCS25q11Molybdenum cofactor biosynthesis protein 1

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

* 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.

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