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UBE3B - blepharophimosis-ptosis-intellectual disability syndrome

This test is available for the following conditions:

Conditions > Intellectual Disability > Blepharophimosis-ptosis-intellectual disability syndrome

This product is also part of the following panels:

Comprehensive preconception carrier test panel¹
Intellectual disability panel
Mendelian inherited disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 244450
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 542

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- Radboudumc & MaasrichtUMC+

Blepharophimosis-ptosis-intellectual disability syndrome

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Gene

UBE3B - blepharophimosis-ptosis-intellectual disability syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Performing laboratory
Radboudumc

€ 542

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UBE3B - blepharophimosis-ptosis-intellectual disability syndrome

GEN

complete analysis

targeted analysis of a familial mutation

€ 542

Add Update Remove

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