eagle-i Oregon Health & Science UniversityOregon Health & Science University
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Rett Syndrome DNA analysis

eagle-i ID

http://ohsu.eagle-i.net/i/0000012b-00ce-c09c-79a3-373680000034

Resource Type

  1. Material analysis service

Properties

  1. Resource Description
    "Mutation scanning of the MeCP2 gene, followed by DNA sequencing if a sequence change is identified. MLPA deletion analysis is available, upon request, if mutation analysis is negative."
  2. Additional Name
    CDKL5-Related Atypical Rett Syndrome
  3. Additional Name
    CDKL5-Related X-Linked Infantile Spasm Syndrome
  4. Additional Name
    MECP2 Duplication Syndrome
  5. Additional Name
    MECP2-Related Disorders
  6. Additional Name
    MLPA-Rett Testing
  7. Additional Name
    Rett Syndrome Congenital Variant
  8. Contact
    Richards, Carolyn Sue, PhD
  9. Service Provided by
    Molecular Diagnostic Center
  10. 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