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Diagnosis of multiple osteochondromas (EXT1 and EXT2 genes)

  • UF de Gntique Molculaire
  • Service de Biochimie et Gntique Molculaire
  • Centre de Biologie
  • 58 Rue Montalembert
  • 63003 CLERMONT-FERRAND
  • FRANCE
  • Director of laboratory : Pr Isabelle CREVEAUX
  • More information
  • Phone : 33 (0)4 73 75 18 49
  • Additional Phone : -
  • Fax : 33 (0)4 73 75 44 32
  • Website
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

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
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
PCR based techniques
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (2)
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.