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

 

OMIM

GeneLocusProtein
SRYYp11.3Sex-determining region Y protein

Laboratory Test Method Prenatal Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain• Sequence analysis of the entire coding region
  
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA• Sequence analysis of the entire coding region
 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• FISH-metaphase
• Deletion/duplication analysis
 
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Deletion/duplication 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
 
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA• Sequence analysis of the entire coding region
 
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Deletion/duplication analysis
 
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Deletion/duplication analysis
 
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• FISH-metaphase
• FISH-interphase
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Deletion/duplication analysis
 
Genetics Associates, Inc. - Nashville, TN, USA• FISH-metaphase
• FISH-interphase
 
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia• Deletion/duplication analysis
 
Greenwood Genetic Center, Clinical Cytogenetics Laboratory - Greenwood, SC, USA• FISH-metaphase
• FISH-interphase
 
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Sequence analysis of the entire coding region
 
Indiana University School of Medicine, Cytogenetics Laboratory - Indianapolis, IN, USA• FISH-metaphase
• FISH-interphase
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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• Sequence analysis of the entire coding region
• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
 
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• Sequence analysis of the entire coding region
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
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• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
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• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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
• Deletion/duplication analysis
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Deletion/duplication analysis
 
UMass Memorial Medical Center, Cytogenetics Laboratory - Worcester, MA, USA• FISH-metaphase
 
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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• Deletion/duplication 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• Deletion/duplication analysis
 
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.

Loading...