NR1H4

OMIMHGNC

Synonym(s): FXR, RIP14, HRR1, HRR-1

Locus: 12q23.1

Protein: Bile acid receptor

 

Disorders

Tests

Test Type
Molecular (10)
Multi-Gene Panel (6)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (5)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (6)
Prenatal/Carrier
Prenatal (4)
Carrier (6)
Lab Location
USA(5)
Germany(3)
Canada(2)
 
Neonatal and Adult Cholestasis: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Neonatal and Adult Cholestasis: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 4-5 Weeks
price: contact lab
NR1H4
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: $1,290.00
Cholestasis Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,590.00
Cholestasis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-6 weeks
price: contact lab
Progressive Familial Intrahepatic Cholestasis NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 4-6 weeks
price: contact lab
NR1H4 Gene Sequencing
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 3-4 weeks
price: contact lab
Intrahepatic cholestasis of pregnancy, NR1H4 related
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Cholestasis, infantile, NR1H4 related
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-6 weeks
price: contact lab
Cholestasis, familial panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany