Disorders

46,XX Testicular Disorder of Sex Development

Synonym(s): 46,XX Male Syndrome, 46,XX Testicular DSD, XX Male Syndrome, XX Testicular Disorder of Sex Development

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

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA	• FISH-metaphase
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• FISH-metaphase
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA	• Targeted mutation analysis
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
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
GENDA - Ciudad autonoma de Buenos Aires, Argentina
GeneDx - Gaithersburg, MD, USA	• FISH-metaphase
Genetics Associates, Inc. - Nashville, TN, USA	• FISH-metaphase • FISH-interphase
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
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA	• FISH-metaphase • FISH-interphase
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
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
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
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
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 California Los Angeles, UCLA Diagnostic Molecular Pathology Laboratory - Los Angeles, CA, USA	• Targeted mutation analysis
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

^* 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.