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Diagnosis of limb girdle muscular dystrophies (ANO5, CAPN3, CAV3, DYSF, FKTN, FKRP, LMNA, MYOT, POMGNT1, POMT1, POMT2, SGCA, SGCB, and SGCG genes)

  • Neuromuskulres Forschungszentrum
  • Zentrum fr Anatomie und Zellbiologie
  • Medizinische Universitt Wien
  • 1090 WIEN
  • AUSTRIA
  • Director of laboratory : Pr Reginald BITTNER
  • More information
  • Phone : +43 (0)1 40160 37508
  • Additional Phone : -
  • Fax : +43 (0)1 40160 937500
  • Website
  • Contact
Last update: January 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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