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Williams 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 unti/mL). Do NOT use lithium heparin. 1-2 mL usually adequate for infants/small children. Keep at room temperature. Comments: Fluorescent In-Situ Hybridization methods combine both molecular and cytogenetic techniques. They are employed to delineate subtle syndrome related chromosome defects. Williams syndrome probes are used to examine chromosome 7 for deletion of the elastin gene."
  3. Contact
    Olson, Susan B., Ph.D.
  4. Contact
    Wilcox, Kim
  5. Topic
    Williams-Beuren syndrome
  6. Service Provided by
    Clinical Cytogenetics Laboratory
  7. Website(s)
  8. Related Protocol(s)
    Williams Syndrome detection using FISH protocol
  9. Related Technique
    Fluorescent in situ hybridization
Provenance Metadata About This Resource Record
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The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016