SH3BP2

OMIMHGNC

Synonym(s): RES4-23, CRBM

Locus: 4p16.3

Protein: SH3 domain-binding protein 2

 

Disorders

Tests

Test Type
Molecular (19)
Multi-Gene Panel (8)
Multi-Method Panel (6)
Test Method
Del/Dup (CNV) (5)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (10)
Sequencing, Next Gen (10)
Prenatal/Carrier
Prenatal (3)
Carrier (6)
Lab Location
USA(9)
Netherlands(1)
Poland(1)
Spain(2)
Portugal(4)
Canada(1)
Germany(1)
 
TAT: 3-4 weeks
price: $330.00
Cherubism (analysis exon 9 SH3BP2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Cherubism Test (the SH3BP2 gene - the most common mutations)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 4-6 weeks
price: contact lab
Cherubism
method(s): ◦ Sequencing, Capillary (Sanger) 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
TAT: 7-8 weeks
price: contact lab
NGS of 6 genes: ANO5, EXT1, EXT2, FGFR1, GNAS, SH3BP2
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-5 weeks
price: contact lab
SH3BP2 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
Cherubism , Sequencing Exon 9 SH3BP2 Gene
method(s): ◦ Mutation Scanning of Select Exons 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Cherubism (sequence analysis of exon 9 of SH3BP2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Cherubism
method(s): ◦ Sequencing, Capillary (Sanger) 
University of Connecticut Health Center, Center for Regenerative Medicine and Skeletal Development - Farmington, CT, USA
TAT: 4-6 weeks
price: contact lab
Autoinflammatory Diseases Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 2-4 weeks
price: contact lab
Fever Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 36 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Neurofibromatosis (NextGen Sequencing Panel and Copy Number Analysis; 21 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-6 Weeks
price: contact lab
Periodic Fever Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
SH3BP2
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Auto-inflammatory disorders � all subtypes (NGS panel of 18 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Auto-inflammatory disorders � sterile inflammation (NGS panel of 9 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 6-8 weeks
price: contact lab
Cherubism, SH3BP2 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
TAT: 2-3 weeks
price: $840.00
Cherubism via the SH3BP2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Autoinflammatory Syndromes Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 3-5 weeks
price: $2,190.00
Skeletal Disorders and Joint Problems Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA