Disorders


 

X-Linked Syndromic Mental Retardation, Claes-Jensen Type


Synonym(s): KDM5C-Related X-Linked Mental Retardation, MRXSCJ

 

OMIM

GeneLocusProtein
KDM5CXp11.22-p11.21Histone demethylase JARID1C

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Center for Human Genetics, Inc - Cambridge, MA, USA• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA• Sequence analysis of the entire coding region
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, 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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