EGLN1

OMIMHGNC

Synonym(s): SM-20, PHD2, ZMYND6, HIFPH2, C1orf12

Locus: 1q42.2

Protein: EGLN1

 

Disorders

Tests

Test Type
Molecular (15)
Multi-Gene Panel (9)
Multi-Method Panel (6)
Test Method
Del/Dup (CNV) (5)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (8)
Sequencing, Next Gen (9)
Prenatal/Carrier
Prenatal (2)
Carrier (7)
Lab Location
Spain(4)
Portugal(1)
USA(5)
Germany(3)
Austria(2)
 
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 3
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Erythrocytosis, Familial: EGLN1 gene sequence analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Familial Erythrocytosis Type 3, Sequencing EGLN1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 weeks
price: contact lab
Hereditary Pheochromocytoma and Paraganglioma Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Erythrocytosis familial, 3 (sequence analysis of EGLN1 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
EGLN1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: contact lab
Comprehensive Cancer Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
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
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 3
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Hereditary Paraganglioma-Pheochromocytoma Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, 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