Disorders

Mental Retardation, X-Linked, with Growth Hormone Deficiency

Synonym(s): MRGH

Gene	Locus	Protein
SOX3	Xq27	Transcription factor SOX-3

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
Hpital Trousseau - Assistance Publique des Hpitaux de Paris, U.F. de Gntique Molculaire - Paris, France
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase • FISH-interphase
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* 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.