Disorders

TBX5-Related Holt-Oram Syndrome

Synonym(s): Heart and Hand Syndrome, Heart-Hand Syndrome

Gene	Locus	Protein
TBX5	12q24.1	T-box transcription factor TBX5

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Baylor College of Medicine, John Welsh Cardiovascular Diagnostic Laboratory - Houston, TX, USA
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Charit Unversitaetsmedizin Berlin, Institute of Medical Genetics and Human Genetics - Berlin, Germany
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
diagenos - Osnabrueck, Germany
GeneDx - Gaithersburg, MD, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, 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.