Disorders


 

22q11.2 Deletion Syndrome


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

 

GeneReviewOMIM

GeneLocusProtein
TBX122q11.21 

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark• Deletion/duplication analysis
 
Akron Children's Hospital, Cytogenetics Laboratory - Akron, OH, USA• FISH-metaphase
• FISH-interphase
 
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark• Deletion/duplication analysis
 
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA• FISH-metaphase
 
BayCare Laboratories, LLC, BayCare Cytogenetics Laboratory - Tampa, FL, USA• FISH-metaphase
 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• FISH-metaphase
 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey• FISH-metaphase
 
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Deletion/duplication analysis
 
Brigham and Women's Hospital, Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory - Boston, MA, USA• FISH-metaphase
• FISH-interphase
 
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA• FISH-metaphase
 
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany• Deletion/duplication analysis
 
Center for Human Genetics, Inc - Cambridge, MA, USA• FISH-metaphase
• FISH-interphase
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
CGC Genetics - Porto, Portugal• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
 
Children's Hospital of Philadelphia, Cytogenetics Laboratory - Clinical Labs - Philadelphia, PA, USA• FISH-metaphase
• FISH-interphase
 
Cincinnati Children's Hospital Medical Center, Cytogenetics Laboratory - Cincinnati, OH, USA• FISH-metaphase
 
CytoGenX - Stony Brook, NY, USA• FISH-metaphase
 
Emory University School of Medicine, Emory Molecular Cytogenetics Laboratory - Atlanta, GA, USA• FISH-metaphase
• FISH-interphase
 
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Deletion/duplication analysis
 
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• FISH-metaphase
• FISH-interphase
 
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia• FISH-metaphase
• FISH-interphase
 
GENNET s.r.o., Laboratory of Molecular Cytogenetics - Prague, Czech Republic• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
 
Greenwood Genetic Center, Clinical Cytogenetics Laboratory - Greenwood, SC, USA• FISH-metaphase
• FISH-interphase
 
Hospital Clinico Universidad de Chile, Citogenetica Seccion Genetica - Santiago, Chile• FISH-metaphase
• FISH-interphase
 
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Deletion/duplication analysis
 
Indiana University School of Medicine, Cytogenetics Laboratory - Indianapolis, IN, USA• FISH-metaphase
• FISH-interphase
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Linkage analysis
• Deletion/duplication analysis
 
INTA University of Chile, Molecular Cytogenetic Laboratory - Santiago, Chile• FISH-metaphase
 
Integrated Genetics, Cytogenetics and Biochemistry Laboratory - Santa Fe, NM, USA• FISH-metaphase
• FISH-interphase
 
Integrated Genetics, Molecular Cytogenetics Laboratory - Monrovia, CA, USA• FISH-metaphase
 
IWK Health Centre, Molecular Diagnostic Laboratory - Halifax, Canada• Deletion/duplication analysis
 
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
 
LabCorp, Clinical Cytogenetics Laboratory - Research Triangle Park, NC, USA• FISH-metaphase
• FISH-interphase
 
LabCorp/Dynacare Laboratories - Seattle, Molecular Cytogenetics - Seattle, WA, USA• FISH-metaphase
• FISH-interphase
 
Marquette General Health System, Cytogenetics and Molecular Pathology Laboratory - Marquette, MI, USA• FISH-metaphase
• FISH-interphase
 
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA• FISH-metaphase
• FISH-interphase
 
Medgene, MedGene - Bratislava, Slovakia• Deletion/duplication analysis
 
Mercy St. Vincent Medical Center, Cytogenetics and Molecular Genetics Laboratory - Toledo, OH, USA• FISH-metaphase
• FISH-interphase
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
 
Michigan State University, Clinical Genetics Laboratory - East Lansing, MI, USA• FISH-metaphase
• FISH-interphase
 
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - Cytogenetics and Cytogenomics Lab - New York, NY, USA• FISH-metaphase
• FISH-interphase
 
Nationwide Children's Hospital, ChildLab Cytogenetics Laboratory - Columbus, OH, USA• FISH-metaphase
 
Nucleo de Genetica Medica de Minas Gerais, GENE - Belo Horizonte, Brazil• Deletion/duplication analysis
 
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA• FISH-metaphase
• FISH-interphase
 
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Deletion/duplication analysis
 
Quest Diagnostics Nichols Institute - California, Cytogenetics Laboratory - San Juan Capistrano, CA, USA• FISH-metaphase
 
Quest Diagnostics Nichols Institute - Virginia, Cytogenetics Laboratory - Chantilly, VA, USA• FISH-metaphase
 
Sanford USD Medical Center, Sanford Clinic USD Genetics Laboratory - Sioux Falls, SD, USA• FISH-metaphase
 
Seattle Children's Hospital, Cytogenetics - Seattle, WA, USA• FISH-metaphase
• FISH-interphase
 
Shodair Children's Hospital, Genetics Laboratory - Helena, MT, USA• FISH-metaphase
• FISH-interphase
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Linkage analysis
• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
 
SUNY Upstate Medical University, Cytogenetics Laboratory - Syracuse, NY, USA• FISH-metaphase
 
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
 
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy• Linkage analysis
• FISH-metaphase
• FISH-interphase
 
Tulane University School of Medicine, Hayward Genetics Center Cytogenetics Lab - New Orleans, LA, USA• FISH-metaphase
 
UMass Memorial Medical Center, Cytogenetics Laboratory - Worcester, MA, USA• FISH-metaphase
• FISH-interphase
 
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
 
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA• FISH-metaphase
 
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands• Sequence analysis of the entire coding region
 
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada• Deletion/duplication analysis
 
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA• Sequence analysis of the entire coding region
 
University of Colorado Anschutz Medical Campus, Colorado Genetics Laboratory - Denver, CO, USA• FISH-metaphase
• FISH-interphase
 
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA• FISH-metaphase
• FISH-interphase
 
University of Washington Medical Center, Cytogenetics Laboratory - Seattle, WA, USA• FISH-metaphase
 
University of Wisconsin - Madison / WSLH, UW Cytogenetic Services - Madison, WI, USA• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
 
Washington University School of Medicine - Department of Pathology and Immunology, Clinical Genomics Laboratory - Saint Louis, MO, USA• FISH-metaphase
• FISH-interphase
 

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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