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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
Properties
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Resource Description
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"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. "
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Additional Name
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PWS (Methylation) DNA test
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Contact
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Richards, Carolyn Sue, PhD
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Service Provided by
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Molecular Diagnostic Center
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Website(s)
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http://www.ohsu.edu/ohsuedu/academic/som/basicscience/genetics/diagnosticslabs/molec_diag_ctr.cfm
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Related Technique
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DNA methylation profiling assay