Orphanet: Diagnostic de la polypose gastrointestinale juvénile gènes BMPR1A et SMAD4
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Diagnosis of generalized juvenile polyposis (BMPR1A and SMAD4 genes)

  • Laboratoire de Biologie Mdicale OncoGnAuvergne - Unit d'Oncogntique
  • CLCC Jean Perrin
  • 58 Rue Montalembert BP 392
  • 63011 CLERMONT-FERRAND CEDEX 1
  • FRANCE
  • Director of laboratory : Pr Yves-Jean BIGNON
  • More information
  • Phone : 33 (0)4 73 27 80 50
  • Additional Phone : -
  • Fax : 33 (0)4 73 27 80 42
  • Website
  • Contact
Last update: February 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
MLPA based techniques
Targeted mutation analysis
PCR 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
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)
Deletion / Duplication analysis
PCR based techniques

List of diseases and genes

List of genes tested (including panels) (2)
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