EGLN1

OMIMHGNC

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

Locus: 1q42.1

Protein: EGLN1

 

Disorders

Tests

Test
Familial Erythrocytosis 3
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
TAT: 4-6 weeks
price: contact lab
Hereditary Cancer Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
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
TAT: 4-6 weeks
price: contact lab
Paraganglioma-Pheochromocytomas NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA