Disorders

Langer Mesomelic Dwarfism

Gene	Locus	Protein
SHOX	Xp22.33 and Yp11.32	Short stature homeobox protein

Laboratory	Test Method	Prenatal	Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany
Esoterix, Inc., Molecular Endocrinology - Calabasas Hills, CA, USA	• Mutation scanning of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA

^* 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.