Disorders

TCOF1-Related Treacher Collins Syndrome

Synonym(s): TCS1, Treacher Collins Syndrome 1

Gene	Locus	Protein
TCOF1	5q32	Treacle protein

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
diagenos - Osnabrueck, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain
Praxis fuer Humangenetik Wien - Vienna, Austria
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy	• 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.