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Diagnosis of Neurodegeneration with Brain Iron Accumulation (gene panel)
- Laboratorium voor Genoomdiagnostiek
- Afdeling Humane Genetica
- Amsterdam UMC, locatie VUmc
- De Boelelaan 1117
- 1081 HV AMSTERDAM
- NETHERLANDS
- Director of laboratory : Dr E.A. [Erik] SISTERMANS
- More information
Last update: July 2019
Responsible of diagnostic test
Purpose(s)
Post-natal diagnosis
Technical procedure(s)
Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)
List of diseases and genes
List of diseases tested
(12)
Additional information
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