Orphanet: Diagn�stico molecular da doen�a de Charcot Marie Tooth tipos 1A, 1B, 1C, 1D, 1E, 1F, 2A2, 2B1, 2C, 2E, 2I, 2J, 2K, 4A, 4C, X, tipo A interm�dia autoss�mica recessiva e dominante intermedi�ria, tipo D genes NEFL, GDAP1, EGR2, TRPV4, SH3TC2: sequencia��o de toda a regi�o codificante e MPZ, GJB1, LITAF, LMNA, PMP22, MFN: sequencia��o e MLPA
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Molecular diagnosis of Charcot-Marie-Tooth disease types 1A, 1B, 1C, 1D, 1E, 1F, 2A2, 2B1, 2C, 2E, 2I, 2J, 2K, 4A, 4C, X and autosomal dominant intermediate CMT disease type D and autosomal recessive intermediate CMT disease type A (NEFL, GDAP1, EGR2, TRPV4, SH3TC2 genes: sequencing of the entire coding region and MPZ, GJB1, LITAF, LMNA, PMP22, MFN: sequencing and MLPA)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 13/07/2015
  • CGC Genetics / Centro de Gentica Clnica
  • CGC Genetics / Centro de Gentica Clnica
  • Rua de S da Bandeira 706, 1
  • 4000-432 PORTO
  • PORTUGAL
  • Director of laboratory : Dr Jorge PINTO BASTO
  • More information
  • Phone : 351 223 389 900
  • Additional Phone : -
  • Fax : 351 222 088 710
  • Website
  • Contact
Last update: July 2015

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis
Somatic genetics

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
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MLPA based techniques
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