Disorders

Birt-Hogg-Dube Syndrome

Synonym(s): BHD

Gene	Locus	Protein
FLCN	17p11.2	Folliculin

Laboratory	Test Method	Prenatal	Carrier *
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA	• Mutation scanning of the entire coding region
Cologne University, Institute of Human Genetics - Cologne, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden	• Linkage analysis
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University Hospitals of Geneva - Genetic Medicine, Genetic Oncology - DiagMol - Geneva, Switzerland	• Sequence analysis of select exons

^* 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.