Disorders


 

GABA-Transaminase Deficiency


 

OMIM

GeneLocusProtein
ABAT16p13.24-aminobutyrate aminotransferase, mitochondrial

Laboratory Test Method Prenatal Carrier *
VU University Medical Center, Metabolic Unit - 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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