EPOR

OMIMHGNC

Locus: 19p13.2

Protein: Erythropoietin receptor

 

Disorders

Tests

Test Type
Molecular (16)
Multi-Gene Panel (6)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (3)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (9)
Sequencing, Next Gen (7)
Prenatal/Carrier
Prenatal (5)
Carrier (8)
Lab Location
Spain(3)
Portugal(2)
USA(5)
Germany(3)
Austria(2)
Canada(1)
 
Hereditary Erythrocytosis Panel Test
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic, Metabolic Hematology Laboratory - Rochester, MN, USA
Familial Erythrocytosis 1
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Familial Erythrocytosis Type 1 , Sequencing EPOR Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Erythrocytosis, familial (sequence analysis of EPOR gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Erythrocytosis (sequence analysis of EPOR gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4-6 weeks
price: contact lab
Erythrocytes, Anemia Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
EPOR
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Familial Erythrocytosis, Panel Massive Sequencing (NGS) 4 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: $690.00
Primary Familial and Congenital Polycythemia (PFCP) via the EPOR Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $750.00
Primary Familial and Congenital Polycythemia (PFCP) via the EPOR Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Erythrocytosis, familial/ Polycythemia (Polyzythämie/ Erythrozytose)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Erythrocytosis (Erythrozytosis)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
Erythrocytosis, familial type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-6 weeks
price: contact lab
EPOR Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-8 weeks
price: contact lab
10050 NGS Panel for Congenital Erythrocytosis / Familial Polycythemia
method(s): ◦ Sequencing, Next Gen 
BLOODGENETICS S.L. - ESPLUGUES DE LLOBREGAT, BARCELONA, Spain
TAT: 4-8 weeks
price: contact lab
Primary Familial and Congenital Polycythemia
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada