Orphanet: Diagnosi molecolare della neutropenia congenita grave geni ELANE, HAX1, GFI1, G6PC3
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Molecular diagnosis of severe congenital neutropenia (ELANE, HAX1, GFI1, G6PC3 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 24/05/2012
  • Laboratorio di Genetica Pediatrica
  • ASST Spedali Civili di Brescia
  • Piazzale Spedali Civili 1
  • 25123 BRESCIA BS
  • ITALY
  • Director of laboratory : Pr Silvia GILIANI
  • More information
  • Phone : +39 030 3996284
  • Additional Phone : -
  • Fax : +39 030 3996059
  • Website
  • Contact
Last update: May 2012

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
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List of diseases and genes

List of diseases tested (3)
Autosomal dominant severe congenital neutropenia
Cyclic neutropenia
Kostmann syndrome
List of genes tested (including panels) (4)
ELANE
G6PC3
GFI1
HAX1
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