Disorders

KAL1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

Synonym(s): Hypogonadotropic Hypogonadism and Anosmia, Kallmann Syndrome, X-Linked, Kallmann Syndrome 1

Gene	Locus	Protein
KAL1	Xp22.32	Anosmin-1

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA	• FISH-metaphase
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• FISH-metaphase
bio.logis Center for Human Genetics - Frankfurt, Germany
Brigham and Women's Hospital, Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory - Boston, MA, USA	• FISH-metaphase
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA	• FISH-metaphase
Centogene AG, Rare Disease Company - Rostock, Germany
Cincinnati Children's Hospital Medical Center, Cytogenetics Laboratory - Cincinnati, OH, USA	• FISH-metaphase
CytoGenX - Stony Brook, NY, USA	• FISH-metaphase
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	• FISH-metaphase • FISH-interphase
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey	• FISH-metaphase • FISH-interphase
Genetics Associates, Inc. - Nashville, TN, USA	• FISH-metaphase
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia
Greenwood Genetic Center, Clinical Cytogenetics Laboratory - Greenwood, SC, USA	• FISH-metaphase • FISH-interphase
Indiana University School of Medicine, Cytogenetics Laboratory - Indianapolis, IN, USA	• FISH-metaphase
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Integrated Genetics, Cytogenetics and Biochemistry Laboratory - Santa Fe, NM, USA	• FISH-metaphase
Integrated Genetics, Molecular Cytogenetics Laboratory - Monrovia, CA, USA	• FISH-metaphase
LabCorp, Clinical Cytogenetics Laboratory - Research Triangle Park, NC, USA	• FISH-metaphase
Marquette General Health System, Cytogenetics and Molecular Pathology Laboratory - Marquette, MI, USA	• FISH-metaphase • FISH-interphase
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA	• FISH-metaphase • FISH-interphase
Medgene, MedGene - Bratislava, Slovakia
Michigan State University, Clinical Genetics Laboratory - East Lansing, MI, USA	• FISH-metaphase • FISH-interphase
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - Cytogenetics and Cytogenomics Lab - New York, NY, USA	• FISH-metaphase • FISH-interphase
Nationwide Children's Hospital, ChildLab Cytogenetics Laboratory - Columbus, OH, USA	• FISH-metaphase
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA	• FISH-metaphase
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Praxis fuer Humangenetik Wien - Vienna, Austria
Quest Diagnostics Nichols Institute - California, Cytogenetics Laboratory - San Juan Capistrano, CA, USA	• FISH-metaphase
Quest Diagnostics Nichols Institute - Virginia, Cytogenetics Laboratory - Chantilly, VA, USA	• FISH-metaphase
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Shodair Children's Hospital, Genetics Laboratory - Helena, MT, USA	• FISH-metaphase • FISH-interphase
SUNY Upstate Medical University, Cytogenetics Laboratory - Syracuse, NY, USA	• FISH-metaphase
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany
Tulane University School of Medicine, Hayward Genetics Center Cytogenetics Lab - New Orleans, LA, USA	• FISH-metaphase
UMass Memorial Medical Center, Cytogenetics Laboratory - Worcester, MA, USA	• FISH-metaphase
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA	• FISH-metaphase
University of Colorado Anschutz Medical Campus, Colorado Genetics Laboratory - Denver, CO, USA	• FISH-metaphase • FISH-interphase
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA	• FISH-metaphase • FISH-interphase
University of Washington Medical Center, Cytogenetics Laboratory - Seattle, WA, USA	• FISH-metaphase
Washington University School of Medicine - Department of Pathology and Immunology, Clinical Genomics Laboratory - Saint Louis, MO, USA	• FISH-metaphase • FISH-interphase

^* 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.