Disorders


 

BAAT-Related Familial Hypercholanemia


 

OMIM

GeneLocusProtein
BAAT9q22.3Bile acid-CoA:amino acid N-acyltransferase

Laboratory Test Method Prenatal Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands• 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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