EPAS1

OMIMHGNC

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

Locus: 2p21-p16

Protein: Putative uncharacterized protein EPAS1

 

Disorders

Tests

Test Type
Molecular (5)
Panel (2)
Test Method
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (2)
Sequencing, Next Gen (3)
Lab Location
USA(4)
Germany(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 4
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Clinical Exome
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2 Weeks
price: contact lab
EPAS1
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Single Gene
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA

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