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Diagnosis of 46 XY disorder of sex development [panel of genes]

  • 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
NGS sequencing (except WES)
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques
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