eagle-i Oregon Health & Science UniversityOregon Health & Science University
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Noonan syndrome test

eagle-i ID

http://ohsu.eagle-i.net/i/0000012b-00ce-c09c-79a3-37368000002f

Resource Type

  1. Material analysis service

Properties

  1. Resource Description
    "Mutation screening using dHPLC to identify sequence changes. Sequence changes are analyzed by direct sequencing to determine the presence of a pathogenic mutation or a benign single nucleotide polymorphism."
  2. Additional Name
    KAAS-Related Noonan Syndrome test
  3. Additional Name
    PTNII-Related Leopard Syndrome test
  4. Additional Name
    PTPNII Mutation Analysis
  5. Additional Name
    PTPNII-Related Noonan Syndrome test
  6. Additional Name
    RAF1-Related Leopard Syndrome test
  7. Additional Name
    RAF1-Related Noonan Syndrome test
  8. Additional Name
    SOS1-Related Noonan Syndrome test
  9. Contact
    Richards, Carolyn Sue, PhD
  10. Service Provided by
    Molecular Diagnostic Center
  11. Website(s)
    http://www.ohsu.edu/ohsuedu/academic/som/basicscience/genetics/diagnosticslabs/molec_diag_ctr.cfm
 
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The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016