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Angelman genetic diagnostic testing

eagle-i ID


Resource Type

  1. Material analysis service


  1. Fee for service
  2. Resource Description
    "Reference Range: Angelman Syndrome is linked to the functional loss of imprinted genes located in the maternally derived 15q 11-q13 region. In 75% of these cases this is the result of a maternal deletion of the 15q 11-q13 region; paternal uniparental disomy accounts for another 3-7% of cases. Comments: Fluorescent In-Situ Hybridization methods combine molecular and cytogenetic techniques. They are employed to delineate subtle syndrome related chromosome defects. Multiple chromosome 15 probes are used for the detection of deletion in the Prader-Willi/Angelman Syndrome region. 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
    Angelman syndrome
  6. Service Provided by
    Clinical Cytogenetics Laboratory
  7. Website(s)
  8. Related Technique
    Fluorescent in situ hybridization
  9. Related Technique
    Karyotyping assay
Provenance Metadata About This Resource Record
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The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016