Disorders

Saethre-Chotzen Syndrome, FGFR2-Related

Gene	Locus	Protein
FGFR2	10q25.3-q26	Fibroblast growth factor receptor 2

Laboratory	Test Method	Prenatal	Carrier *
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia	• Targeted mutation analysis
Cologne University, Institute of Human Genetics - Cologne, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - New York, NY, USA
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.