Disorders

X-Linked Mental Retardation Associated with Fragile Site FRAXE

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

Gene	Locus	Protein
AFF2	Xq28	AF4/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 • Methylation analysis • Deletion/duplication analysis
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 • Targeted mutation analysis • Methylation analysis • Deletion/duplication 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	• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia	• Targeted mutation analysis • Methylation 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 • Methylation 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.