NR5A1-Related 46,XY DSD and 46,XY CGD

Synonym(s): 46,XY Disorder of Sex Development with Adrenal Failure, 46,XY DSD with Adrenal Failure, XY Sex Reversal with Adrenal Failure

 

OMIMRelated Disorders

GeneLocusProtein
NR5A19q33.3Steroidogenic factor 1 nuclear receptor
Test Type
Molecular (17)
Multi-Gene Panel (6)
Multi-Method Panel (1)
Test Method
Del/Dup (CNV) (4)
Sequencing, Capillary (Sanger) (9)
Sequencing, Next Gen (5)
Prenatal/Carrier
Prenatal (5)
Carrier (9)
Lab Location
USA(10)
Sweden(1)
Korea, Republic of(1)
France(1)
Turkey(1)
Bulgaria(1)
Spain(2)


Test
NR5A1-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Human Genetics, Inc - Cambridge, MA, USA
NR5A1-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Del/Dup (CNV) 
Center for Human Genetics, Inc - Cambridge, MA, USA
NR5A1-Related 46,XY DSD and 46,XY CGD Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
NR5A1-related 46,XY DSD test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 3-4 weeks
price: contact lab
NR5A1 Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 6-7 weeks
price: contact lab
NR5A1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
NR5A1 - 46XY sex reversal ; Adrenocortical insufficiency; Premature ovarian failure ; Spermatogenic failure
method(s): ◦ Sequencing, Capillary (Sanger) 
Hopital Trousseau - Assistance Publique des Hopitaux de Paris, U.F. de Genetique Moleculaire - Paris, France
NR5A1-Related Disorders
method(s): ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
NR5A1 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GMDL Genica - Sofia, Bulgaria
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: 8-9 weeks
price: contact lab
Hypospadias Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Gonadal Dysgenesis, Sequencing NR5A1
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: $690.00
NR5A1-Related Disorders via the NR5A1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $650.00
NR5A1-Related Disorders via the NR5A1 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