Disorders


 

X-Linked Mental Retardation Associated with Fragile Site FRAXE


Synonym(s): FRAXE Mental Retardation Syndrome, FRAXE Syndrome

 

OMIM

GeneLocusProtein
AFF2Xq28AF4/FMR2 family member 2

Laboratory Test Method Prenatal Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Targeted mutation analysis
  
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Targeted mutation analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Targeted mutation analysis
  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
  
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA• Targeted mutation analysis
  
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Targeted mutation analysis
  
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain• Targeted mutation analysis
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Medgene, MedGene - Bratislava, Slovakia• Targeted mutation analysis
  
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA• Targeted mutation analysis
  
Praxis fuer Humangenetik Wien - Vienna, Austria• Targeted mutation analysis
  
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea• Targeted mutation analysis
  
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA• Targeted mutation analysis
  
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Targeted mutation analysis
  
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Targeted mutation 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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