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Prader-Willi Syndrome (Methylation) DNA test

eagle-i ID

http://ohsu.eagle-i.net/i/0000012b-00ce-c09c-79a3-373680000003

Resource Type

  1. Material analysis service

Properties

  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)
    http://www.ohsu.edu/ohsuedu/academic/som/basicscience/genetics/diagnosticslabs/molec_diag_ctr.cfm
  6. Related Technique
    DNA methylation profiling assay
 
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