Disorders

Borjeson-Forssman-Lehmann Syndrome

Synonym(s): BFLS

Gene	Locus	Protein
PHF6	Xq26	PHD finger protein 6

Laboratory	Test Method	Prenatal	Carrier *
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia	• Targeted mutation analysis
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* 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.