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
  • GERMANY
  • 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

Purpose(s)

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

List of diseases and genes

List of diseases tested (6)
Autosomal dominant severe congenital neutropenia
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Cyclic neutropenia
Kostmann syndrome
X-linked severe congenital neutropenia
List of genes tested (including panels) (6)
CSF3R
ELANE
G6PC3
GFI1
HAX1
WAS

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.