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Prader-Willi Syndrome (Methylation) DNA test

eagle-i ID


Resource Type

  1. Material analysis service


  1. Resource Description
    "Specimen Requirements: 6.0 mL blood in EDTA vacutainer tube. For requisition slips. Pediatric Specimen Requirements: 2 mL blood in EDTA vacutainer tube. Reference Range: PWS is associated with the functional loss of inprinted 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). Interpretation: Professional interpretation of the methylation status of the small ribonucleoprotein associated polypeptide N (SNRPN) gene determines normal/disease states. Comments: Southern blot analysis of genomic DNA digested with specific restriction enzymes is used to assess imprinting and uniparental disomy of the 15q 11-q13 region. "
  2. Additional Name
    PWS (Methylation) DNA test
  3. Contact
    Richards, Carolyn Sue, PhD
  4. Service Provided by
    Molecular Diagnostic Center
  5. Website(s)
  6. Related Technique
    DNA methylation profiling assay
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