Orphanet: Diagn�stico de la enfermedad de Charcot Marie Tooth tipo 2B1 gen LMNA mutaci�n c.892 CT p.R298C

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Diagnostic of Charcot-Marie-Tooth disease type 2B1 (LMNA gene / c.892 C>T mutation (p.R298C))

Despite our efforts to ensure that data is up to date, this activity has not been validated since 13/06/2016
  • Servicio de Genmica y Gentica Traslacional
  • Centro de Investigacin Prncipe Felipe (CIPF)
  • Calle Eduardo Primo Yfera 3
  • 46012 VALENCIA
  • Director of laboratory : Dr Carmen ESPINS
  • More information
  • Phone : 34 963289680
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: June 2016

Responsible of diagnostic test


Post-natal diagnosis
Somatic genetics

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
PCR based techniques
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
PCR based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)
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