Orphanet: Diagnosis of Osteogenesis Imperfecta and Related Disorders gene panel

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Diagnosis of Osteogenesis Imperfecta and Related Disorders (gene panel)

  • Laboratorium voor Genoomdiagnostiek
  • Afdeling Klinische Genetica
  • Amsterdam UMC, locatie VUmc
  • De Boelelaan 1117
  • Director of laboratory : Dr E.A. [Erik] SISTERMANS
  • More information
  • Phone : +31 (0)20 444 8346
  • Additional Phone : -
  • Fax : +31 (0)20 444 8293
  • Website
  • Contact
Last update: July 2019


Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
MLPA based techniques
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)

Additional information

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.