Disorders

Townes-Brocks Syndrome

Gene	Locus	Protein
SALL1	16q12.1	Sal-like protein 1

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
diagenos - Osnabrueck, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
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.