Disorders


 

X-Linked Mental Retardation 9


Synonym(s): FTSJ1-Related X-Linked Mental Retardation, FTSJ1-Related X-Linked Nonsyndromic Mental Retardation, MRX44, MRX9, X-Linked Mental Retardation 44, X-Linked Nonsyndromic Mental Retardation 44, X-Linked Nonsyndromic Mental Retardation 9

 

OMIM

GeneLocusProtein
FTSJ1Xp11.23Putative ribosomal RNA methyltransferase 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
  
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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