Disorders

22q11.2 Deletion Syndrome

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

Gene	Locus	Protein
TBX1	22q11.21	T-box transcription factor TBX1

Laboratory	Test Method	Prenatal	Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark
Akron Children's Hospital, Cytogenetics Laboratory - Akron, OH, USA	• FISH-metaphase • FISH-interphase
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark
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
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
Center for Human Genetics, Inc - Cambridge, MA, USA	• FISH-metaphase • FISH-interphase
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal	• FISH-metaphase • FISH-interphase
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	• FISH-metaphase • FISH-interphase
GENETAQ, Molecular Genetics Centre - Malaga, Spain
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
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
Indiana University School of Medicine, Cytogenetics Laboratory - Indianapolis, IN, USA	• FISH-metaphase • FISH-interphase
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Linkage 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
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden	• FISH-metaphase • FISH-interphase
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
Mercy St. Vincent Medical Center, Cytogenetics and Molecular Genetics Laboratory - Toledo, OH, USA	• FISH-metaphase • FISH-interphase
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• FISH-metaphase • FISH-interphase
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
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
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
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
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
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
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA
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
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.