Search for a diagnostic test
Diagnosis of Severe Congenital Neutropenia (ELANE, GFI1, HAX1, G6PC3 and WAS 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
List of diseases and genes
List of diseases tested
(4)
Additional information
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.