Disorders


 

X-Linked Mental Retardation with Epilepsy


Synonym(s): Mental Retardation, X-Linked, with Epilepsy, XMRE

 

OMIM

GeneLocusProtein
ATP6AP2Xp11.4Renin receptor

Laboratory Test Method Prenatal Carrier *
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
 
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• 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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