Disorders


 

16p11.2 Microdeletion


 

GeneReviewOMIM


Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA• Deletion/duplication analysis
  
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Deletion/duplication analysis
  
CGC Genetics - Porto, Portugal• Deletion/duplication analysis
 
Emory University School of Medicine, Emory Molecular Cytogenetics Laboratory - Atlanta, GA, USA• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
 
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, 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.

Loading...