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Molecular diagnosis of intellectual disability syndromes [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
  • ITALY
  • Director of laboratory : Dr Alberta LEON
  • More information
  • Phone : 39 049 8705062
  • Additional Phone : -
  • Fax : 39 049 8706696
  • Website
  • Contact
Last update: March 2018

Responsible of diagnostic test

Purpose(s)

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 (172)
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.