Disorders

Coffin-Lowry Syndrome

Gene	Locus	Protein
RPS6KA3	Xp22.2-p22.1	Ribosomal protein S6 kinase alpha-3

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain

^* 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.