TBX1

OMIMHGNC

Synonym(s): CATCH22, VCF

Locus: 22q11.21

Protein: T-box 1

 

Disorders

Tests

Test Type
Molecular (62)
Cytogenetic (2)
Multi-Gene Panel (49)
Multi-Method Panel (35)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (1)
Del/Dup (CNV) (37)
FISH-Interphase (1)
FISH-Metaphase (2)
Methylation Analysis (1)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (15)
Repeat Expansion / Contraction (1)
Sequencing, Next Gen (46)
Prenatal/Carrier
Prenatal (24)
Carrier (31)
Lab Location
USA(36)
Spain(5)
Portugal(4)
Turkey(1)
Poland(2)
Germany(7)
Canada(4)
Austria(2)
Finland(3)
 
TAT: 7-8 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: 4-6 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: 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 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 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 - Hospitalet de Llobregat, 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
Severe Combined Immunodeficiency 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
CardioNext -Inherited Cadiovascular Panel
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 Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2-3 weeks
price: contact lab
TBX1 Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-6 weeks
price: contact lab
Congenital Heart Defects Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
DiGeorge syndrome (sequence analysis of TBX1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Severe Combined Immunodeficiency (SCID) B+/B-: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Severe Combined Immunodeficiency (SCID) B+: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Cardiovascular disease panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
Combined Immunodeficiencies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Syndromes with Immunodeficiency Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 2-4 weeks
price: contact lab
Comprehensive Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 502 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Congenital Heart Defects (NextGen Sequencing Panel and Copy Number Analysis; 77 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 733 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Syndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 577 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: contact lab
Pan-Cardio NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
TBX1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: $1,150.00
Congenital heart disease NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,500.00
Congenital heart disease NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $2,500.00
Congenital heart disease NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
DiGeorge syndrome (deletion/duplication analysis of TBX1 gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
CID with associated or syndromic features – All subtypes (NGS panel of 45 genes and deletion of 22q11.2 by MLPA)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
CID with associated or syndromic features - Thymic defects (NGS panel for 4 genes and deletion of 22q11.2 by MLPA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 3-4 weeks
price: contact lab
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 1-2 weeks
price: $560.00
KaryoNIM 180K Autism
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) 
NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain
TAT: 10-12 weeks
price: $1,290.00
ExoNIM Autism Spectrum Disorders
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain
Conotruncal Heart Malformations Related Disorders, Panel Massive Sequencing (NGS) 5 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 weeks
price: contact lab
CustomNext-Cardio
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
DiGeorge syndrome (DiGeorge Syndrom)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Praxis fuer Humangenetik Wien - Vienna, Austria
Cardiac defect, developmental (Herzentwicklungsstörungen)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
DiGeorge syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
Congenital Heart Disease NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 weeks
price: contact lab
B-positive SCID panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4 weeks
price: contact lab
Hypoparathyroidism Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-5 weeks
price: contact lab
Comprehensive SCID panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 7-8 weeks
price: contact lab
Congenital heart defects panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Congenital Heart Defects and Heterotaxy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Congenital Heart Disease Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Monogenic Autoimmunity Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Syndromic Combined Immunodeficiency (CID) Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 2-4 weeks
price: contact lab
Microcephaly (NextGen Sequencing Panel and Copy Number Analysis; 241 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 3-4 weeks
price: contact lab
Primary Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Severe Combined Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Congenital Structural Heart Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Primary Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Severe Combined Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Congenital Structural Heart Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 733 Genes + Fragile X Repeat Expansion and Methylation)
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA