Disorders

Craniofrontonasal Syndrome

Synonym(s): CFND, CFNS, Craniofrontonasal Dysostosis, Craniofrontonasal Dysplasia

Gene	Locus	Protein
EFNB1	Xq12	Ephrin-B1

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
GeneDx - Gaithersburg, MD, USA
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
GGA - Galil Genetic Analysis - Kazerin, Israel
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - New York, NY, USA
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain	• Mutation scanning of the entire coding region
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel

^* 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.