NR0B1-Related 46,XY DSD and 46,XY CGD

Synonym(s): Dosage-Sensitive Sex Reversal

 

OMIMRelated Disorders

GeneLocusProtein
NR0B1Xp21.2Nuclear receptor subfamily 0 group B member 1
Test Type
Molecular (7)
Multi-Gene Panel (2)
Multi-Method Panel (1)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (2)
Prenatal/Carrier
Prenatal (4)
Carrier (6)
Lab Location
USA(6)
France(1)


Test
TAT: 3-4 weeks
price: contact lab
NR0B1 (DAX1) Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-6 weeks
price: contact lab
NR0B1 (DAX1) Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
NR0B1 - 46XY sex reversal ; Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
method(s): ◦ Sequencing, Capillary (Sanger) 
Hopital Trousseau - Assistance Publique des Hopitaux de Paris, U.F. de Genetique Moleculaire - Paris, France
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: 3-4 weeks
price: $690.00
NR0B1-Related Disorders via the NR0B1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $540.00
NR0B1-Related Disorders via the NR0B1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
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