Disorders


 

Renpenning Syndrome 1


Synonym(s): Mental Retardation, X-Linked, Renpenning Type, Mental Retardation, X-Linked, with Spastic Diplegia, MRX55, MRXS3, MRXS8, PQBP1-Related Syndromic Mental Retardation, PQBP1-Related X-Linked Mental Retardation, Sutherland-Haan X-Linked Mental Retardation Syndrome, X-Linked Syndromic Mental Retardation 3, X-Linked Syndromic Mental Retardation 55, X-Linked Syndromic Mental Retardation 8

 

OMIM

GeneLocusProtein
PQBP1Xp11.23Polyglutamine-binding protein 1

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
Center for Human Genetics, Inc - Cambridge, MA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
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
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA• Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• 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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