Orphanet: Diagnosis of Severe Congenital Neutropenia ELANE, GFI1, HAX1, G6PC3 and WAS gene

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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
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Last update: November 2018


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

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.