Orphanet: Diagnosi molecolare postnatale della malattia di Charcot Marie Tooth tipo 1A, 1B, 1D, 2A, 2C, 2D, 2E, 2F, 2L, 4A, 4C, 4D, 4F, legata all_X analisi dei geni PMP22, MPZ, EGR2, GJB1, MFN2, TRPV4, GARS, NEFL, HSPB1, HSPB8, GDAP1, SH3TC2, NDRG1, PRX mediante sequenziamento dell_intera regione codificante ed MLPA
x

Search for a diagnostic test

* (*) mandatory field

Postnatal molecular diagnosis of Charcot-Marie-Tooth disease (sequence analysis of the entire coding region and MLPA of PMP22, MPZ, EGR2, GJB1, MFN2, TRPV4, GARS, NEFL, HSPB1, HSPB8, GDAP1, SH3TC2, NDRG1, PRX genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 29/10/2015
  • Laboratorio di Genetica Umana
  • Dipartimento di Biologia
  • UniversitÓ degli Studi di Padova- Polo A.Vallisneri
  • Viale G. Colombo 3
  • 35121 PADOVA
  • ITALY
  • Director of laboratory : Dr Giovanni VAZZA
  • More information
  • Phone : 39 049 8276213
  • Additional Phone : 39 049 8276214
  • Fax : 39 049 8276209
  • Website
Last update: October 2015

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
-
-
MLPA based techniques
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.