Disorders


 

Aromatic L-Amino Acid Decarboxylase Deficiency


Synonym(s): Dopa Decarboxylase Deficiency

 

OMIM

GeneLocusProtein
DDC7p12.1Aromatic-L-amino-acid decarboxylase

Laboratory Test Method Prenatal Carrier *
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
  
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA• Analyte
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region
• Analyte
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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