Orphanet: Diagn�stico del s�ndrome de Dejerine Sottas genes PMP22, MPZ, EGR2
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Diagnosis of Dejerine-Sottas syndrome (PMP22, MPZ, EGR2 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 27/07/2017
  • Laboratorio de Diagnstico Molecular
  • Fundacin Rioja Salud - Centro de Investigacin Biomdica de La Rioja
  • Calle Piqueras, 98
  • 26006 LOGROO
  • SPAIN
  • Director of laboratory : Dr Elena DOMNGUEZ GARRIDO
  • More information
  • Phone : 34 941 27 88 92
  • Additional Phone : -
  • Fax : 34 941 27 88 86
  • Website
  • Contact
Last update: July 2017

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (3)

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2017
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.