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

 

OMIMRelated Disorders

GeneLocusProtein
SRYYp11.2Sex-determining region Y protein
Test Type
Molecular (39)
Cytogenetic (29)
Multi-Gene Panel (12)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (16)
FISH-Interphase (9)
FISH-Metaphase (21)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (15)
Sequencing, Next Gen (8)
Prenatal/Carrier
Prenatal (19)
Carrier (17)
Lab Location
USA(46)
Slovakia(1)
Spain(6)
Colombia(1)
Netherlands(2)
Portugal(3)
Israel(1)
Austria(1)
Sweden(4)
Germany(1)
France(1)
Canada(1)


Test
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Sequencing, Capillary (Sanger) 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Chromosome FISH, Metaphase
method(s): ◦ FISH-Metaphase 
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Denver Genetics Laboratory at Children's Hospital Colorado - Aurora, CO, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medgene, MedGene - Bratislava, Slovakia
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
Mercy St. Vincent Medical Center, Cytogenetics and Molecular Genetics Laboratory - Toledo, OH, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - Cytogenetics and Cytogenomics Lab - New York, NY, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Interphase 
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - Cytogenetics and Cytogenomics Lab - New York, NY, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
Nationwide Children's Hospital, ChildLab Cytogenetics Laboratory - Columbus, OH, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Del/Dup (CNV) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Del/Dup (CNV) 
GENETIX Centro de Investigacion en Genetica Humana y Reproductiva - Bogota, Colombia
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
Quest Diagnostics Nichols Institute - California, Cytogenetics Laboratory - San Juan Capistrano, CA, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
Quest Diagnostics Nichols Institute - Virginia, Cytogenetics Laboratory - Chantilly, VA, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Radboud University Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Del/Dup (CNV) 
Radboud University Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Del/Dup (CNV) 
Claritas Genomics - Cambridge, MA, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
Center for Human Genetics, Inc - Cambridge, MA, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Interphase 
Center for Human Genetics, Inc - Cambridge, MA, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
Quest Diagnostics- Marlborough, MA, Cytogenetics Laboratory - Marlborough, MA, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Del/Dup (CNV) 
University of California Los Angeles, UCLA Diagnostic Molecular Pathology Laboratory - Los Angeles, CA, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
CGC Genetics - Porto, Portugal
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Interphase 
CGC Genetics - Porto, Portugal
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
Colorado Genetics Laboratory, University of Colorado Anschutz Medical Campus - Denver, CO, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Interphase 
Colorado Genetics Laboratory, University of Colorado Anschutz Medical Campus - Denver, CO, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Interphase 
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA
TAT: 1 week
price: contact lab
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
University of Washington Medical Center, Cytogenetics and Genomics Laboratory - Seattle, WA, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Del/Dup (CNV) 
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Interphase 
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Praxis fuer Humangenetik Wien - Vienna, Austria
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Instituto de Medicina GenĂ³mica, IMEGEN - Paterna (Valencia), Spain
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Del/Dup (CNV) 
Instituto de Medicina GenĂ³mica, IMEGEN - Paterna (Valencia), Spain
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
Integrated Genetics, Cytogenetics and Biochemistry Laboratory - Santa Fe, NM, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Interphase 
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Del/Dup (CNV) 
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Metaphase 
Seattle Children's Hospital, Cytogenetics - Seattle, WA, USA
SRY-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ FISH-Interphase 
Seattle Children's Hospital, Cytogenetics - Seattle, WA, USA
TAT: 3-4 weeks
price: contact lab
SRY Molecular Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
FISH-SRY Analysis
method(s): ◦ FISH-Metaphase 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
SRY-Related 46,XY DSD and 46,XY CGD
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 2-4 weeks
price: contact lab
Chromosome FISH
method(s): ◦ FISH-Metaphase 
Kennedy Krieger Institute, Cytogenetics and Microarray Laboratory - Baltimore, MD, USA
TAT: 4-5 weeks
price: contact lab
Sanger sequencing of the SRY gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-10 days
price: contact lab
Sex Determination (SRY)
method(s):
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA
TAT: 2-3 weeks
price: contact lab
Prenatal SRY Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 3-4 weeks
price: contact lab
SRY Deletion FISH
method(s): ◦ FISH-Metaphase ◦ FISH-Interphase 
GeneDx - Gaithersburg, MD, USA
TAT: 4-6 weeks
price: contact lab
SRY Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
Infertility (mutations on SRY gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
SRY - 46XY sex reversal
method(s): ◦ Sequencing, Capillary (Sanger) 
Hopital Trousseau - Assistance Publique des Hopitaux de Paris, U.F. de Genetique Moleculaire - Paris, France
SRY, Sequencing SRY Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 7-10 days
price: contact lab
SRY
method(s): ◦ FISH-Metaphase 
Cincinnati Children's Hospital Medical Center, Cytogenetics Laboratory - Cincinnati, OH, USA
Y-Chromosome: SRY Analysis
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-9 weeks
price: contact lab
Abnormal/Ambiguous Genitalia Sequencing Test
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-4 weeks
price: $690.00
SRY-related Disorders of Sex Development via the SRY Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $440.00
SRY-related Disorders of Sex Development via the SRY Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 1-3 weeks
price: $1,500.00
Invitae Disorders of Male Sex Development Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 3-5 weeks
price: $2,240.00
Disorders of Sex Development and Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Disorders of Sex Development and Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,990.00
Disorders of Sex Development Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Disorders of Sex Development Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,990.00
Female Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Female Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,190.00
Male Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Male Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA