EFTUD2

OMIMHGNC

Synonym(s): U5-116KD, Snrp116, Snu114, SNRNP116

Locus: 17q21.31

Protein: 116 kDa U5 small nuclear ribonucleoprotein component

 

Disorders

Tests

Test Type
Molecular (25)
Multi-Gene Panel (16)
Multi-Method Panel (8)
Test Method
Del/Dup (CNV) (10)
Sequencing, Capillary (Sanger) (5)
Sequencing, Next Gen (19)
Prenatal/Carrier
Prenatal (16)
Carrier (14)
Lab Location
Portugal(2)
Spain(2)
Estonia(1)
USA(16)
Finland(3)
Germany(1)
 
TAT: 8-9 weeks
price: contact lab
Facial Dysostosis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
Microcephaly Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Mandibulofacial Dysostosis with Microcephaly Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Denver Genetics Laboratory at Children's Hospital Colorado - Aurora, CO, USA
TAT: 4-6 weeks
price: contact lab
Facial Dysostosis Deletion/Duplication panel
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Mandibulofacial dysostosis with microcephaly (sequence analysis of EFTUD2 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Mandibulofacial Dysostosis Guion-Almeida Type, Sequencing EFTUD2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 8-9 weeks
price: contact lab
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: contact lab
price: $1,502.00
Microcephaly
method(s): ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
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: 2-3 weeks
price: $680.00
Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $990.00
Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA)
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,570.00
Mandibulofacial Dysostosis, Guion-Almeida type (MFDGA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-5 Weeks
price: contact lab
EFTUD2
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Microcephaly NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-4 weeks
price: $1,250.00
Treacher Collins syndrome and related disorders NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $990.00
Treacher Collins syndrome and related disorders NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $2,090.00
Treacher Collins syndrome and related disorders NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: contact lab
Facial Dysostosis and Related Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Microcephaly and Pontocerebellar Hypoplasia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-5 weeks
price: $990.00
Mandibulofacial Dysostosis, Guion-Almeida Type via the EFTUD2 Gene
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,690.00
Facial Dysostosis Related Disorders Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,440.00
Treacher Collins Syndrome/ Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Mandibulofacial dysostosis with microcephaly
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
Facial Dysostosis Related Disorders, Panel Massive Sequencing (NGS) 10 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain