Disorders

FGFR1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

Synonym(s): Hypogonadotropic Hypogonadism and Anosmia, Kallmann Syndrome 2, Autosomal, Kallmann Syndrome 2

Gene	Locus	Protein
FGFR1	8p12	Fibroblast growth factor receptor 1

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
bio.logis Center for Human Genetics - Frankfurt, Germany
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Cologne University, Institute of Human Genetics - Cologne, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
InVitae Corporation - San Francisco, CA, USA
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany

^* 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.