ESR1

OMIMHGNC

Synonym(s): NR3A1, Era, ESR

Locus: 6q25.1-q25.2

Protein: Estrogen receptor alpha delta 4,5,7 isoform

 

Disorders

Tests

Test Type
Molecular (14)
Multi-Gene Panel (10)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (1)
Mutation Scanning of Entire Coding Region (3)
Sequencing, Capillary (Sanger) (3)
Genotyping (Microarray, Beads, etc.) (1)
Sequencing, Next Gen (10)
Prenatal/Carrier
Carrier (6)
Lab Location
Spain(2)
USA(6)
Czech Republic(1)
Germany(2)
Austria(1)
Canada(2)
 
Osteoporosis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Laboratories AGEL a.s. - Novy Jicin, Czech Republic
Estrogen Resistance, Polymorphisms (PvuII and Xbal) ESR1 Gene
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Susceptibility to Drugs, Sequencing ESR1 and ESR2 Genes
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3 weeks
price: contact lab
Solid Tumor Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 4-6 weeks
price: contact lab
Somatic Tumor Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
OnkoSight Solid Tumor Panel
method(s): ◦ Sequencing, Next Gen 
GenPath - Elmwood Park, NJ, USA
TAT: 4-5 Weeks
price: contact lab
ESR1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
Estrogen resistance
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
Breast/ovarian cancer (Brust- Eierstockkrebs)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
CEN4GEN Breast cancer: Extended Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 3 weeks
price: contact lab
Breast Tumors Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: ~2 weeks
price: $1,200.00
Female Fertility Panel (9 Genes Sequenced)
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA
TAT: ~2 weeks
price: $1,500.00
Estrogen Resistance (ESR1 Sequencing)
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA