Disorders


 

Acrodysostosis 1, with or without Hormone Resistance


Synonym(s): ACRDYS1, ADOHR

 

OMIM

GeneLocusProtein
PRKAR1A17q23-q24 

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
  
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain• Sequence analysis of select exons
  

* 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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