NR5A1

OMIMHGNC

Synonym(s): FTZ1, SF-1, ELP, AD4BP, hSF-1, FTZF1

Locus: 9q33.3

Protein: Steroidogenic factor 1 nuclear receptor

 

Disorders

Tests

Test Type
Molecular (30)
Cytogenetic (1)
Multi-Gene Panel (20)
Multi-Method Panel (10)
Test Method
Del/Dup (CNV) (11)
Sequencing, Capillary (Sanger) (11)
Repeat Expansion / Contraction (1)
Sequencing, Next Gen (19)
Prenatal/Carrier
Prenatal (13)
Carrier (23)
Lab Location
USA(11)
Korea, Republic of(1)
France(1)
Turkey(1)
Bulgaria(1)
Spain(4)
Portugal(1)
Poland(1)
Canada(3)
Finland(4)
Austria(2)
Germany(1)
 
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
TAT: 8-10 weeks
price: contact lab
Premature Ovarian Failure Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
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
Spermatogenic failure 8 (SPGF8, sequence analysis of NR5A1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Endocrine Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Endocrine Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
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
Premature Ovarian Failure Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Premature Ovarian Failure (POF) and Related Disorders, Panel Massive Sequencing (NGS) 15 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
NR5A1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
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: contact lab
Abnormal Genitalia/ Disorders of Sex Development Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Short Stature Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Premature Ovarian Failure Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
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
46XY sex reversal (Geschlechtsumkehr XY)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Spermatogenic failure (Spermatogenese-Defekt)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Spermatogenic Failure, Panel Massive Sequencing (NGS) 9 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
SPGF8
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