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Molecular diagnosis of central congenital hypothyroidism (TRH, TRHR, TSHB, IGSF1 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 04/01/2018
  • Laboratorio Sperimentale di Ricerche Endocrino-Metaboliche
  • Genetica delle Malattie Endocrine
  • Istituto Auxologico Italiano
  • Via Zucchi 18
  • Director of laboratory : Pr Luca PERSANI
  • More information
  • Phone : 39 02 619112432
  • Additional Phone : 39 02 619112390
  • Fax : 39 02 619113033
  • Website
Last update: January 2018


Antenatal diagnosis
Post-natal diagnosis
Newborn screening

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
MLPA based techniques
Targeted mutation analysis
NGS sequencing (except WES)
Sequence analysis: entire coding region
NGS sequencing (except WES)
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