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Diagnosis of DiGeorge syndrome (TBX1 gene)

  • S.O.D. Genetica Molecolare
  • Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
  • Via Roma 67
  • 56126 PISA
  • Director of laboratory : Dr Maria A CALIGO
  • More information
  • Phone : 39 050 992644
  • Additional Phone : 39 050 992907
  • Fax : 39 050 992895
  • Website
Last update: February 2019

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
PCR based techniques
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Detection of microdeletions/microduplications

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.