EPG5

OMIMHGNC

Synonym(s): hEPG5, KIAA1632

Locus: 18q12.3-q21.1

Protein: Ectopic P granules protein 5 homolog

 

Disorders

Tests

Test Type
Molecular (14)
Multi-Gene Panel (7)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (1)
Sequencing, Capillary (Sanger) (7)
Sequencing, Next Gen (8)
Prenatal/Carrier
Prenatal (2)
Carrier (3)
Lab Location
Portugal(3)
Spain(1)
Netherlands(2)
USA(4)
Germany(3)
Austria(1)
 
Corpus callosum agenesis - cataract - immunodeficiency (sequence analysis of EPG5 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Vici Syndrome, Sequencing EPG5 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-8 weeks
price: $1,545.00
Analysis EPG5 gene (Vici Syndrome)
method(s): ◦ Sequencing, Capillary (Sanger) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 11-12 weeks
price: contact lab
EPG5 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 7-8 weeks
price: contact lab
Cataract
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Genetic Disorders with Abnormal Pigmentation Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
VICI syndrome (EPG5)
method(s): ◦ Sequencing, Capillary (Sanger) 
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-5 Weeks
price: contact lab
EPG5
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
CID with associated or syndromic features – All subtypes (NGS panel of 45 genes and deletion of 22q11.2 by MLPA)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
CID with associated or syndromic features – other syndromes (NGS panel of 16 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 8-9 weeks
price: contact lab
Hypospadias Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Cataract (Katarakt)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
Vici syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany