Orphanet: Diagnostik der kongenitalen schweren Neutropenie Gene: CSF3R, ELANE, GFI1, G6PC3, HAX1, WAS

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Diagnosis of severe congenital neutropenia (CSF3R, ELANE, GFI1, G6PC3, HAX1, WAS genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 29/06/2017
  • Pränatal-Medizin München, Frauenärzte und Humangenetiker, Labor für molekulare Genetik
  • Pränatal-Medizin München MVZ GmbH
  • Aiblingerstr. 8
  • 80639 MÜNCHEN
  • Director of laboratory : Dr Christoph BAGOWSKI
  • More information
  • Phone : 49 (0)89 1307 44 0
  • Additional Phone : -
  • Fax : 49 (0)89 1307 44 99
  • Website
  • Contact
Last update: June 2017

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

Additional information

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