Rett Syndrome DNA analysis

eagle-i ID

Resource Type

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