Disorders


 

22q11.2 Duplication


Synonym(s): 22q11.2 Microduplication Syndrome

 

GeneReviewOMIM


Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark• Deletion/duplication analysis
  
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
 
GeneDx - Gaithersburg, MD, USA• FISH-metaphase
• FISH-interphase
 
Integrated Genetics, Molecular Cytogenetics Laboratory - Monrovia, CA, USA• FISH-metaphase
 
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
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• FISH-interphase
• Deletion/duplication analysis
 
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
• FISH-interphase
 
Quest Diagnostics Nichols Institute - Virginia, Cytogenetics Laboratory - Chantilly, VA, USA• FISH-metaphase
 
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada• Deletion/duplication analysis
 
University of Colorado Anschutz Medical Campus, Colorado Genetics Laboratory - Denver, CO, 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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