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Diagnosis of recessive mitochondrial ataxia syndrome (POLG gene)

  • Unidad de investigacin en neurogentica
  • Fundaci Institut d'Investigaci en Cincies de la Salut Germans Trias i Pujol
  • Carretera de Can Ruti. Cam de les escoles s/n
  • 08916 BADALONA
  • SPAIN
  • Director of laboratory : Dr Antoni MATILLA-DUEAS
  • More information
  • Phone : 34 934 978 687
  • Additional Phone : -
  • Fax : 34 934 978 654
  • Website
Last update: October 2017

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

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.