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Miller-Dieker lissencephaly syndrome testing

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. Comments: Fluorescent In-Situ Hybridization methods combine molecular and cytogenetic techniques. They are employed to delineate subtle syndrome related chromosome defects. The Miller-Dieker Syndrome probe is used to examine chromosome 17 for deletion of the region felt to be responsible for lissencephaly. Please use the Cytogenetics Laboratory Request Forms available on the wards or from the Cytogenetics Lab. Please include detailed clinical information related to the reason for referral to cytogenetics."
  3. Contact
    Olson, Susan B., Ph.D.
  4. Contact
    Wilcox, Kim
  5. Topic
  6. Service Provided by
    Clinical Cytogenetics Laboratory
  7. Website(s)
  8. 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