Disorders


 

ABCA12-Related Autosomal Recessive Congenital Ichthyosis


 

OMIM

GeneLocusProtein
ABCA122q34ATP-binding cassette sub-family A member 12

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
GeneDx - Gaithersburg, MD, USA• Sequence analysis of select exons
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany  

* 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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