TBX1

OMIMHGNC

Synonym(s): CATCH22, VCF

Locus: 22q11.21

Protein: T-box 1

 

Disorders

Tests

Test Type
Molecular (21)
Cytogenetic (2)
Panel (12)
Test Method
Del/Dup (CNV) (5)
FISH-Interphase (1)
FISH-Metaphase (2)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (13)
Prenatal/Carrier
Prenatal (6)
Carrier (8)
Lab Location
USA(19)
Spain(2)
Turkey(1)
Poland(1)
 
TAT: 12-13 weeks
price: contact lab
Severe Combined Immunodeficiency Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 11-12 weeks
price: contact lab
TBX1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 1 week
price: contact lab
Velocardiofacial Syndrome (FISH)
method(s): ◦ FISH-Metaphase 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 7-8 weeks
price: contact lab
NGS of 19 genes: ACTC1, BMPR2, CFC1, ELN, G6PC3, GATA4, GATA6, GDF1, GJA1, HCN4, JAG1, MYH6, NKX2-3, NKX2-5, NKX2-6, RBM10, TBX1, TBX20, TLL1
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 16-20 weeks
price: contact lab
Comprehensive Epilepsy Evaluation NGS Panel
method(s): ◦ Sequencing, Next Gen 
Transgenomic - New Haven - New Haven, CT, USA
TAT: 3-5 weeks
price: contact lab
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 3-5 weeks
price: contact lab
devSEEK Sequence Analysis for Neurodevelopment Disorders, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 4-5 weeks
price: contact lab
DGS/VCFS Deletion FISH Analysis
method(s): ◦ FISH-Metaphase ◦ FISH-Interphase 
GeneDx - Gaithersburg, MD, USA
TAT: 4-6 weeks
price: contact lab
TBX1 Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 8-9 weeks
price: contact lab
TBX1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
Primary Immunodeficiency Gene Panel
method(s): ◦ Sequencing, Next Gen 
All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA
TAT: 4-5 weeks
price: contact lab
TBX1 deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-5 weeks
price: contact lab
Severe Combined Immunodeficiency Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Velocardiofacial Syndrome , Deletions TBX1 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Barcelona, Spain
Cardiac Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 4-6 Weeks
price: contact lab
Epilepsy
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Pan-Cardio
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2 Weeks
price: contact lab
TBX1
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Severe Combined Immunodeficiency Panel
method(s): ◦ Sequencing, Next Gen 
All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA
TAT: 8-10 weeks
price: contact lab
CardioNext
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 4 weeks
price: contact lab
TBX1 Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 2-3 weeks
price: contact lab
TBX1 Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA

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