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DiGeorge/velocardiofacial syndrome screening

eagle-i ID


Resource Type

  1. Material analysis service


  1. Fee for service
  2. Resource Description
    "Specimen Requirements: For blood specimens: 3-5 mL drawn into a GREEN top sodium heparin vacutainer or into a pre-heparinized plastic syringe (use 0.2 mL sodium heparin, 1000 unit/mL). Do NOT use lithium heparin. 1-2 cc usually adequate for infants/small children. Keep at room temperature. Prior to sending a sample, please call the laboratory for specific instructions: (503) 494-5400. After hours, contact the Paging Operator at (503) 494-8211 and ask for the Cytogeneticist on call. Pediatric Specimen Requirements: 1-2 mL whole blood in GREEN top sodium hepartin. Comments: Fluorescent In-Situ Hybridization methods combine molecular and cytogenetic techniques. They are employed to delineate subtle syndrome related chromosome defects. Chromosome 22 specific probes are used for detection of deletion in the DiGeorge/Velocardiofacial region."
  3. Contact
    Olson, Susan B., Ph.D.
  4. Contact
    Wilcox, Kim
  5. Topic
    DiGeorge syndrome
  6. Service Provided by
    Clinical Cytogenetics Laboratory
  7. Website(s)
  8. Related Technique
    Fluorescent in situ hybridization
Provenance Metadata About This Resource Record
Copyright © 2016 by the President and Fellows of Harvard College
The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016