NR1H4
OMIMHGNC
Synonym(s): FXR, RIP14, HRR1, HRR-1
Locus: 12q23.1
Protein: Bile acid receptor
Disorders
Tests
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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 |
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 |
Progressive Familial Intrahepatic Cholestasis NGS Panel method(s): ◦ Sequencing, Next Gen DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA |
NR1H4 Gene Sequencing method(s): ◦ Sequencing, Next Gen DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA |
Intrahepatic cholestasis of pregnancy, NR1H4 related method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
Cholestasis, infantile, NR1H4 related method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
Cholestasis, familial panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |