NR0B1

OMIMHGNC

Synonym(s): DAX1, AHCH, AHC, DSS

Locus: Xp21.2

Protein: Nuclear receptor subfamily 0 group B member 1

 

Disorders

Tests

Test Type
Molecular (27)
Cytogenetic (2)
Multi-Gene Panel (14)
Multi-Method Panel (7)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (1)
Del/Dup (CNV) (12)
FISH-Metaphase (1)
Sequencing, Capillary (Sanger) (13)
Sequencing, Next Gen (11)
Prenatal/Carrier
Prenatal (13)
Carrier (14)
Lab Location
USA(15)
France(1)
Korea, Republic of(1)
Spain(3)
Portugal(2)
Germany(4)
Canada(2)
Finland(1)
 
Isolated X-Linked Adrenal Hypoplasia Congenita (NR0B1/DAX1) Sequencing Test
method(s): ◦ Sequencing, Capillary (Sanger) 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Isolated X-Linked Adrenal Hypoplasia Congenita Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
Isolated X-Linked Adrenal Hypoplasia Congenita Test
method(s): ◦ Del/Dup (CNV) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
NR0B1-related adrenal hypoplasia test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
FISH-Adrenal Hypoplasia Congenita
method(s): ◦ FISH-Metaphase 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
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
TAT: 10-12 weeks
price: contact lab
Hypogonadotropic Hypogonadism Gene Sequencing and Del/Dup Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 2-3 weeks
price: contact lab
Prenatal NR0B1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
X-Linked Congenital Adrenal Hypoplasia , Deletions-Duplications (MLPA) NR0B1 (DAX1) Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
X-Linked Congenital Adrenal Hypoplasia , Sequencing NR0B1 (DAX1) Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: contact lab
X Chromosome Ultra-High Density Microarray
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Kallmann Syndrome, Panel Massive Sequencing (NGS) 20 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Congenital adrenal hypoplasia (sequence analysis of DAX1/NR0B1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
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: 3-5 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
Congenital adrenal hypoplasia (deletion/duplication analysis of NR0B1 gene)
method(s): ◦ Del/Dup (CNV) 
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
TAT: 8-9 weeks
price: contact lab
Hypogonadotropic Hypogonadism Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
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: 4-6 Weeks
price: contact lab
Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
NR0B1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
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: $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: ~2 weeks
price: contact lab
Adrenal hypoplasia
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