Disorders


 

Alpha-Methylacyl-CoA Racemase Deficiency


Synonym(s): AMACR Deficiency

 

OMIM

GeneLocusProtein
AMACR5p13.2Alpha-methylacyl-CoA racemase

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands• Sequence analysis of the entire coding region
• Analyte
• 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.

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