EGLN1

OMIMHGNC

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

Locus: 1q42.1

Protein: EGLN1

 

Disorders

Tests

Test Type
Molecular (10)
Panel (5)
Test Method
Del/Dup (CNV) (1)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (6)
Prenatal/Carrier
Carrier (1)
Lab Location
USA(7)
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
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

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