EPAS1

OMIMHGNC

Synonym(s): MOP2, PASD2, HIF2A, HLF, bHLHe73

Locus: 2p21-p16

Protein: Putative uncharacterized protein EPAS1

 

Disorders

Tests

Test Type
Molecular (8)
Multi-Gene Panel (4)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (2)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (5)
Sequencing, Next Gen (4)
Prenatal/Carrier
Carrier (2)
Lab Location
Portugal(1)
Spain(2)
USA(3)
Germany(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 4
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
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, 4 (sequence analysis of EPAS1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Familial Erythrocytosis Type 4 , Sequencing EPAS1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
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
EPAS1
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 - Barcelona, Spain