Search for a diagnostic test
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
- 20095 CUSANO MILANINO (MI)
- ITALY
- 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
Responsible of diagnostic test
Purpose(s)
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)
List of diseases and genes
List of diseases tested
(4)
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