Disorders

CHD7-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

Synonym(s): Hypogonadotropic Hypogonadism and Anosmia, Kallmann Syndrome 5

Gene	Locus	Protein
CHD7	8q12.2	Chromodomain-helicase-DNA-binding protein 7

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
bio.logis Center for Human Genetics - Frankfurt, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
InVitae Corporation - San Francisco, CA, USA
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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.