UBE3B

OMIMHGNC

Locus: 12q24.11

Protein: Ubiquitin protein ligase E3B

 

Disorders

Tests

Test Type
Molecular (4)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (2)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (2)
Prenatal/Carrier
Carrier (2)
Lab Location
Portugal(1)
USA(1)
Spain(1)
Germany(1)
 
Blepharophimosis-ptosis-intellectual disability syndrome (sequence analysis of UBE3B gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-5 Weeks
price: contact lab
UBE3B
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Kaufman Oculocerebrofacial Syndrome, Sequencing UBE3B Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Blepharophimosis-ptosis-intellectual disability syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany