Orphanet: Diagnosi molecolare delle neuropatie genetiche periferiche [pannello di geni]

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Molecular diagnosis of genetic peripheral neuropathies [panel of genes]

  • Laboratorio Research and Innovation s.r.l.
  • Research&Innovation S.r.l. (R&I Genetics)
  • Torre della Ricerca - C.so Stati Uniti 4 int F
  • 35127 PADOVA
  • Director of laboratory : Dr Alberta LEON
  • More information
  • Phone : 39 049 8705062
  • Additional Phone : -
  • Fax : 39 049 8706696
  • Website
  • Contact
Last update: March 2019

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
NGS sequencing (except WES)
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)

List of diseases and genes

List of diseases tested (78)
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