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Prader-Willi diagnostic testing

eagle-i ID


Resource Type

  1. Material analysis service


  1. Fee for service
  2. Resource Description
    "Specimen Requirements: 5 mL whole blood in ACD (acid citrate dextrose) solution A or B. 3-5 mL blood, GREEN top (sodium heparin) tube. For requisition slips Reference Range: PWS is associated with the functional loss of imprinted genes located in the paternally derived 15q 11-q13 region. This is most commonly the result of either a paternal deletion of the 15q 11-q13 region (75% of cases) or maternal uniparental disomy for chromosome 15 (25% 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."
  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
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The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016