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Molecular diagnosis of congenital myopathy with fiber-type disproportion and Rigid Spine Muscular Dystrophy 1, (SEPN1 gene: sequencing of exons 1, 7, 10)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 09/07/2013
  • Neuromuscular Center
  • Department of Neurology
  • TAYS - Tampere University Hospital
  • Finn-Medi 2, Biokatu 8, 2nd floor
  • 33520 TAMPERE
  • FINLAND
  • Director of laboratory : Dr Johanna PALMIO
  • More information
  • Phone : 358 3 311 75328
  • Additional Phone : -
  • Fax : 358 3 364 0557
  • Website
Last update: July 2013

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
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List of diseases and genes

List of genes tested (including panels) (1)

Additional information

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.