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Diagnosis of myofibrillar myopathy (DES gene)

  • U.O.C. di Genetica Medica
  • Dipartimento di Riproduzione e Accrescimento
  • A.O.U. di Ferrara - Polo Chimico-Bio-Medico
  • Via Fossato di Mortara 74
  • 44121 FERRARA
  • ITALY
  • Director of laboratory : Pr Alessandra FERLINI
  • More information
  • Phone : 39 0532 974403
  • Additional Phone : 39 0532 237773
  • Fax : 39 0532 236157
  • Website
  • Contact
Last update: April 2019

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

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