EGLN1

OMIMHGNC

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

Locus: 1q42.1

Protein: EGLN1

 

Disorders

Tests

Test Type
Molecular (9)
Panel (4)
Test Method
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (5)
Lab Location
USA(6)
Spain(2)
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 3
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
EGLN1
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Hereditary Cancer
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Paraganglioma-Pheochromocytomas
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Single Gene
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Erythrocytosis, Familial: EGLN1 gene sequence analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Familial Erythrocytosis, Sequencing EGLN1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain

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