Disorders

SRY-Related 46,XY DSD and 46,XY CGD

Synonym(s): 46,XY Gonadal Dysgenesis (Y-Linked), 46,XY Sex Reversal, Swyer Syndrome, XY Sex Reversal

Gene	Locus	Protein
SRY	Yp11.3	Sex-determining region Y protein

Laboratory	Test Method	Prenatal	Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• FISH-metaphase
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA
Brigham and Women's Hospital, Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory - Boston, MA, USA	• FISH-metaphase • FISH-interphase
Center for Human Genetics, Inc - Cambridge, MA, USA	• FISH-metaphase • FISH-interphase
CGC Genetics - Porto, Portugal	• FISH-metaphase • FISH-interphase
CGC Genetics USA, Cytogenetics and Molecular Diagnostics Lab - Newark, NJ, USA	• FISH-metaphase • FISH-interphase
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
diagenos - Osnabrueck, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
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
Genetics Associates, Inc. - Nashville, TN, USA	• FISH-metaphase • FISH-interphase
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia
Greenwood Genetic Center, Clinical Cytogenetics Laboratory - Greenwood, SC, USA	• FISH-metaphase • FISH-interphase
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland
Indiana University School of Medicine, Cytogenetics Laboratory - Indianapolis, IN, USA	• FISH-metaphase • FISH-interphase
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
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden	• FISH-metaphase • FISH-interphase
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland
Medgene, MedGene - Bratislava, Slovakia
Mercy St. Vincent Medical Center, Cytogenetics and Molecular Genetics Laboratory - Toledo, OH, USA	• FISH-metaphase
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 • FISH-interphase
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
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
Seattle Children's Hospital, Cytogenetics - Seattle, WA, USA	• FISH-metaphase • FISH-interphase
Shodair Children's Hospital, Genetics Laboratory - Helena, MT, USA	• FISH-metaphase • FISH-interphase
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany
UMass Memorial Medical Center, Cytogenetics Laboratory - Worcester, MA, USA	• FISH-metaphase
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA	• FISH-metaphase
University of California Los Angeles, UCLA Diagnostic Molecular Pathology Laboratory - Los Angeles, CA, USA
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
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.