Disorders


 

KDM6A-Related Kabuki Syndrome


Synonym(s): Kabuki Syndrome 2

 

OMIM

GeneLocusProtein
KDM6AXp11.2Lysine-specific demethylase 6A

Laboratory Test Method Prenatal Carrier *
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
  
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 

* 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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