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Diagnosis of DiGeorge / velocardiofacial syndrome (TBX1 gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 05/11/2013
  • Service d'Histologie - Embryologie - Cytogntique
  • Hpital Necker-Enfants Malades
  • 149 rue de Svres
  • 75743 PARIS
  • FRANCE
  • Director of laboratory : Pr Serge ROMANA
  • More information
  • Phone : 33 (0)1 44 49 49 82
  • Additional Phone : 33 (0)1 44 49 49 83
  • Fax : 33 (0)1 44 49 04 17
  • Website
Last update: November 2013

Responsible of diagnostic test

Purpose(s)

Pre-implantation diagnosis
Post-natal diagnosis
Somatic genetics

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Cytogenetics
Detection of microdeletions/microduplications
FISH

List of diseases and genes

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