Orphanet: Diagnostic de l_ost�ogen�se imparfaite Panel
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Diagnosis of osteogenesis imperfecta (Panel)

  • Phone : 33 (0)1 44 49 51 64
  • Additional Phone : 33 (0)1 44 38 15 07
  • Fax : 33 (0)1 71 19 64 20
  • Website
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
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