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Noonan syndrome test

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

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."
Additional Name

KAAS-Related Noonan Syndrome test
Additional Name

PTNII-Related Leopard Syndrome test
Additional Name

PTPNII Mutation Analysis
Additional Name

PTPNII-Related Noonan Syndrome test
Additional Name

RAF1-Related Leopard Syndrome test
Additional Name

RAF1-Related Noonan Syndrome test
Additional Name

SOS1-Related Noonan Syndrome test
Contact

Richards, Carolyn Sue, PhD
Service Provided by

Molecular Diagnostic Center
Website(s)

http://www.ohsu.edu/ohsuedu/academic/som/basicscience/genetics/diagnosticslabs/molec_diag_ctr.cfm

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