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

 

GeneReviewOMIMRelated Disorders

GeneLocusProtein
SRYYp11.2Sex-determining region Y protein
Test Type
Molecular (7)
Cytogenetic (21)
Multi-Gene Panel (2)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (3)
FISH-Interphase (6)
FISH-Metaphase (15)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (3)
Genotyping (Microarray, Beads, etc.) (1)
Sequencing, Next Gen (2)
Prenatal/Carrier
Prenatal (2)
Carrier (3)
Lab Location
USA(21)
Spain(3)
Portugal(2)
Turkey(1)
Germany(1)


Test
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
Mercy St. Vincent Medical Center, Cytogenetics and Molecular Genetics Laboratory - Toledo, OH, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
Nationwide Children's Hospital, ChildLab Cytogenetics Laboratory - Columbus, OH, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Instituto de Medicina GenĂ³mica, IMEGEN - Paterna (Valencia), Spain
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ Del/Dup (CNV) 
Instituto de Medicina GenĂ³mica, IMEGEN - Paterna (Valencia), Spain
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
Quest Diagnostics Nichols Institute - California, Cytogenetics Laboratory - San Juan Capistrano, CA, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
Quest Diagnostics Nichols Institute - Virginia, Cytogenetics Laboratory - Chantilly, VA, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Claritas Genomics - Cambridge, MA, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
Center for Human Genetics, Inc - Cambridge, MA, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Interphase 
Center for Human Genetics, Inc - Cambridge, MA, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
Quest Diagnostics- Marlborough, MA, Cytogenetics Laboratory - Marlborough, MA, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
CGC Genetics - Porto, Portugal
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Interphase 
CGC Genetics - Porto, Portugal
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
Colorado Genetics Laboratory, University of Colorado Anschutz Medical Campus - Denver, CO, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Interphase 
Colorado Genetics Laboratory, University of Colorado Anschutz Medical Campus - Denver, CO, USA
TAT: 1 week
price: contact lab
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
University of Washington Medical Center, Cytogenetics and Genomics Laboratory - Seattle, WA, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Interphase 
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
Integrated Genetics, Cytogenetics and Biochemistry Laboratory - Santa Fe, NM, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Interphase 
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Metaphase 
Seattle Children's Hospital, Cytogenetics - Seattle, WA, USA
46,XX Testicular Disorder of Sex Development Test
method(s): ◦ FISH-Interphase 
Seattle Children's Hospital, Cytogenetics - Seattle, WA, USA
TAT: 1 week
price: contact lab
SRY Deletion (FISH)
method(s): ◦ FISH-Metaphase 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 6-7 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: 8-9 weeks
price: contact lab
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: ~2 weeks
price: contact lab
46,XX sex reversal type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
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