22q11.2 Deletion Syndrome

Synonym(s): 22q11.2DS, CATCH22, del 22q11.2, Deletion 22q11.2 Syndrome

 

GeneReviewOMIMRelated Disorders

GeneLocusProtein
TBX122q11.21T-box 1
Test Type
Molecular (42)
Cytogenetic (67)
Multi-Gene Panel (10)
Multi-Method Panel (7)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (3)
Del/Dup (CNV) (25)
FISH-Interphase (24)
FISH-Metaphase (45)
Linkage Analysis (1)
Sequencing, Capillary (Sanger) (6)
Sequencing, Next Gen (10)
Chromosome Analysis (1)
Prenatal/Carrier
Prenatal (21)
Carrier (10)
Lab Location
Denmark(2)
USA(65)
Slovakia(1)
Brazil(1)
Turkey(4)
Colombia(2)
Czech Republic(3)
Spain(8)
Canada(2)
Portugal(6)
Austria(1)
Chile(1)
Sweden(3)
Germany(8)
India(1)


Test
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Akron Children's Hospital, Cytogenetics Laboratory - Akron, OH, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
Akron Children's Hospital, Cytogenetics Laboratory - Akron, OH, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
Amplexa Genetics A/S, Amplexa Genetics, Amplexa - Odense C, Denmark
Chromosome FISH, Metaphase
method(s): ◦ FISH-Metaphase 
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
Medgene, MedGene - Bratislava, Slovakia
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Mercy St. Vincent Medical Center, Cytogenetics and Molecular Genetics Laboratory - Toledo, OH, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
Mercy St. Vincent Medical Center, Cytogenetics and Molecular Genetics Laboratory - Toledo, OH, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - Cytogenetics and Cytogenomics Lab - New York, NY, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - Cytogenetics and Cytogenomics Lab - New York, NY, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Nationwide Children's Hospital, ChildLab Cytogenetics Laboratory - Columbus, OH, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
Nucleo de Genetica Medica de Minas Gerais, GENE - Belo Horizonte, Brazil
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
GENETIX Centro de Investigacion en Genetica Humana y Reproductiva - Bogota, Colombia
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
GENETIX Centro de Investigacion en Genetica Humana y Reproductiva - Bogota, Colombia
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
GENNET s.r.o., Laboratory of Cytogenetics and Molecular Cytogenetics - Prague, Czech Republic
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
GENNET s.r.o., Laboratory of Cytogenetics and Molecular Cytogenetics - Prague, Czech Republic
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
GENNET s.r.o., Laboratory of Cytogenetics and Molecular Cytogenetics - Prague, Czech Republic
22q11.2 Deletion Syndrome Test
method(s): ◦ Linkage Analysis 
Instituto de Medicina Genómica, IMEGEN - Paterna (Valencia), Spain
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
Instituto de Medicina Genómica, IMEGEN - Paterna (Valencia), Spain
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Quest Diagnostics Nichols Institute - California, Cytogenetics Laboratory - San Juan Capistrano, CA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Quest Diagnostics Nichols Institute - Virginia, Cytogenetics Laboratory - Chantilly, VA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Sanford USD Medical Center, Sanford Clinic USD Genetics Laboratory - Sioux Falls, SD, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
Claritas Genomics - Cambridge, MA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Center for Human Genetics, Inc - Cambridge, MA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
Center for Human Genetics, Inc - Cambridge, MA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Quest Diagnostics- Marlborough, MA, Cytogenetics Laboratory - Marlborough, MA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
CGC Genetics - Porto, Portugal
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
CGC Genetics - Porto, Portugal
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Colorado Genetics Laboratory, University of Colorado Anschutz Medical Campus - Denver, CO, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
Colorado Genetics Laboratory, University of Colorado Anschutz Medical Campus - Denver, CO, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA
TAT: 1 week
price: contact lab
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
University of Washington Medical Center, Cytogenetics and Genomics Laboratory - Seattle, WA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
University of Wisconsin - Madison / WSLH, UW Cytogenetic Services - Madison, WI, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
University of Wisconsin - Madison / WSLH, UW Cytogenetic Services - Madison, WI, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
BayCare Laboratories, LLC, BayCare Cytogenetics Laboratory - Tampa, FL, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Emory University School of Medicine, Emory Molecular Cytogenetics Laboratory - Decatur, GA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
Emory University School of Medicine, Emory Molecular Cytogenetics Laboratory - Decatur, GA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
Praxis fuer Humangenetik Wien - Vienna, Austria
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Laboratory of Molecular Cytogenetics, INTA, University of Chile - Santiago, Chile
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Integrated Genetics, Cytogenetics and Biochemistry Laboratory - Santa Fe, NM, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
Integrated Genetics, Cytogenetics and Biochemistry Laboratory - Santa Fe, NM, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
LabCorp, Clinical Cytogenetics Laboratory - Research Triangle Park, NC, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
LabCorp, Clinical Cytogenetics Laboratory - Research Triangle Park, NC, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
UP Health System Marquette, Cytogenetics and Molecular Pathology Laboratory - Marquette, MI, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
UP Health System Marquette, Cytogenetics and Molecular Pathology Laboratory - Marquette, MI, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
Seattle Children's Hospital, Cytogenetics - Seattle, WA, USA
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
SUNY Upstate Medical University, Cytogenetics Laboratory - Syracuse, NY, USA
TAT: 1 week
price: contact lab
Products of Conception (POC) Microarray Testing
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) 
Natera, Inc. - San Carlos, CA, USA
TAT: 1 week
price: contact lab
Panorama Non-invasive Prenatal Test Extended Panel
method(s): ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
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: 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
FISH PANEL-Velocardiofacial Syndrome
method(s): ◦ FISH-Metaphase 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 1 week
price: contact lab
Digeorge Syndrome (FISH)
method(s): ◦ FISH-Metaphase 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
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
FISH: 22q11.2 Deletion Syndrome
method(s): ◦ FISH-Metaphase 
Brigham and Women’s Hospital, Center for Advanced Molecular Diagnostics, Clinical Cytogenetics Laboratory - Boston, MA, USA
22q11.2 Deletion Syndrome (DiGeorge Syndrome, VCFS, Shprintzen syndrome, CTAF)
method(s): ◦ Del/Dup (CNV) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 4-6 weeks
price: contact lab
22q11 Deletion Syndrome
method(s): ◦ Del/Dup (CNV) 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
TAT: 2-4 weeks
price: contact lab
Chromosome FISH
method(s): ◦ FISH-Metaphase 
Kennedy Krieger Institute, Cytogenetics and Microarray Laboratory - Baltimore, MD, USA
TAT: 6-7 weeks
price: contact lab
Detection of the 22q11.2 deletion by MLPA
method(s): ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Analysis of Digeorge Syndrome; DGS
method(s): ◦ FISH-Interphase ◦ FISH-Metaphase 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Analysis of Velocardiofacial Syndrome
method(s): ◦ Chromosome Analysis 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 4-6 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: 1-2 weeks
price: contact lab
Prenatal FISH DiGeorge Syndrome
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
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
Di George Syndrome , FISH Whole Blood
method(s): ◦ FISH-Metaphase 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Di George Syndrome, FISH Prenatal Diagnostic
method(s): ◦ FISH-Metaphase 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
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
Di-George Syndrome
method(s): ◦ FISH-Interphase 
DNA Labs India (DLI) - Hyderabad, India
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
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Metaphase 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
22q11.2 Deletion Syndrome Test
method(s): ◦ FISH-Interphase 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
22q11.2 Deletion Syndrome Test
method(s): ◦ Del/Dup (CNV) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
DiGeorge syndrome (sequence analysis of TBX1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Detection by FISH of 22q11.2 delection
method(s): ◦ FISH-Metaphase 
CGC Genetics - Porto, Portugal
TAT: 7-10 days
price: contact lab
FISH for Velocardiofacial/DiGeorge/22q11.2 deletion Syndrome and 22q11.2 duplication syndrome
method(s): ◦ FISH-Interphase ◦ FISH-Metaphase 
Cedars-Sinai Medical Center, Division of Cytogenetics - Los Angeles, CA, USA
TAT: 4-6 weeks
price: contact lab
Combined Immunodeficiencies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany