RBPJ

OMIMHGNC

Synonym(s): SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1, IGKJRB1, RBPSUH

Locus: 4p15.2

Protein: Recombining-binding protein suppressor of hairless

 

Disorders

Tests

Test Type
Molecular (14)
Multi-Gene Panel (8)
Multi-Method Panel (8)
Test Method
Del/Dup (CNV) (8)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (9)
Prenatal/Carrier
Prenatal (9)
Carrier (8)
Lab Location
Spain(3)
Portugal(1)
USA(6)
Kuwait(1)
Finland(2)
Germany(1)
 
TAT: 2-3 weeks
price: $990.00
Adams-Oliver syndrome 3 (AOS3)
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Adams-Oliver syndrome 3 (AOS3)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,290.00
Adams-Oliver syndrome NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $990.00
Adams-Oliver syndrome NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 9-10 weeks
price: contact lab
NGS of 27 genes: BLK, C5, CCL21, CCR6, CD2, CD28, CD40, CD58, IL2, IL21, IL2RA, IL2RB, IL6ST, IRF5, PRDM1, PRKCQ, PTPRC,RAG1, RBPJ, STAT4, RAG1,TAGAP, TNFAIP3,TNFRSF14,TRAF1, TRAF3IP2, TRAF6, VAMP2
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 40 genes: AGRN, BLK, C5, CCL21, CCR6, CD2, CD28, CD40, CD58, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, IL2, IL21, IL2RA, IL2RB, IL6ST, IRF5, MUSK, PRDM1, PRKCQ, PTPRC, RAG1, RAPSN, RBPJ, SCN4A, STAT4, TAGAP, TNFAIP3, TNFRSF14, T
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 2-4 weeks
price: $2,130.00
Adams-Oliver syndrome NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,570.00
Adams-Oliver syndrome 3 (AOS3) Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-8 weeks
price: contact lab
Adams-Oliver Syndrome
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Genatak – Global Med Clinic - Kuwait City, Kuwait
Adams-Oliver syndrome 3 (AOS3, sequence analysis of RBPJ gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Adams-Oliver Type 3 Syndrome, Sequencing RBPJ Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: contact lab
Adams-Oliver Syndrome 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: 3-4 weeks
price: contact lab
Adams-Oliver syndrome type 3
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany