Search for a diagnostic test
Diagnosis of Central Congenital Hypothyroidism (HESX1, IGSF1, LHX3, LHX4, PROP1, POU1F1, TRH, TRHR and TSHB gene)
Despite our efforts to ensure that data is up to date, this activity has not been validated since 09/11/2018- Laboratorium voor Genoomdiagnostiek
- Afdeling Humane Genetica
- Amsterdam UMC, locatie AMC
- Meibergdreef 9
- 1105 AZ AMSTERDAM
- NETHERLANDS
- Director of laboratory : Pr M.M.A.M. [Marcel] MANNENS
- More information
Last update: November 2018
Responsible of diagnostic test
Purpose(s)
Antenatal diagnosis
Post-natal diagnosis
Technical procedure(s)
Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
MLPA based techniques
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)
List of diseases and genes
List of diseases tested
(5)
Additional information
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