Disorders

Camurati-Engelmann Disease

Synonym(s): Engelmann Disease, Progressive Diaphyseal Dysplasia

Gene	Locus	Protein
TGFB1	19q13.1	Transforming growth factor beta-1

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Charit Unversitaetsmedizin Berlin, Institute of Medical Genetics and Human Genetics - Berlin, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of select exons
GGA - Galil Genetic Analysis - Kazerin, Israel
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
University of Antwerp, Department of Medical Genetics - Van Hul Lab - Antwerp, Belgium	• Sequence analysis of select exons • Linkage 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.