Search for a diagnostic test
36 Result(s)
Caption
: Accreditation
= ;

Bayern
MARTINSRIED
Molecular diagnosis congenital neutropenia (NGS screening panel, 21 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Noord-Holland
AMSTERDAM
Molecular diagnosis of Severe Congenital Neutropenia (ELANE, HAX1, G6PC3 and WAS gene)
AMC - Academisch Medisch Centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Ontario
TORONTO
Molecular Diagnosis of Autoinflammatory Disease/Recurrent Fever Syndrome NGS Panel and Del/Dup Analysis (17 genes)
The Hospital for Sick Children and University of Toronto
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Array based techniques

Bayern
MÜNCHEN
Molecular diagnosis of severe congenital neutropenia (CSF3R, ELANE, GFI1, G6PC3, HAX1, WAS genes)
Pränatalmedizin München
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of constitutional neutropenia (gene panel)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Hamburg
HAMBURG
Molecular diagnosis of congenital neutropenias (ELANE, GFI1 genes)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Zuid-Holland
ROTTERDAM
Molecular diagnosis of Severe Congenital Neutropenia (ELA2 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Baden-Württemberg
SINGEN /HTWL.
Molecular diagnosis of severe congenital neutropenias (ELANE, G6PC3, HAX1, TAZ genes)
Institut für Laboratoriumsmedizin und Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
TÜBINGEN
Molecular diagnosis of cyclic neutropenia (ELANE gene: sequencing)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ILE-DE-FRANCE
PARIS
Diagnosis of hereditary immune deficiencies (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

TOSCANA
FIRENZE
Molecular diagnosis of congenital neutropenia (CSF3R gene)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Andalucía
MÁLAGA
Diagnosis of autosomal dominant severe congenital neutropenia (HAX1 gene)
Genetaq
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Andalucía
MÁLAGA
Diagnosis of autosomal dominant severe congenital neutropenia (ELA2, GFI1 genes)
Genetaq
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Cataluña
BARCELONA
Molecular diagnosis of autosomal dominant severe congenital neutropenia (G6PC3 gene)
Hospital Clínic de Barcelona
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

CENTRO
COIMBRA
Molecular diagnosis of cyclic neutropenia and severe congenital neutropenia (ELANE gene): sequencing of the entire coding gene
Hosp. Pediátrico e Hosp. Covões - Centro Hospitalar e Universitário de Coimbra
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

SUL
LISBOA
Molecular diagnosis of congenital neutropenia (ELA2 gene): sequencing of the entire coding region.
Faculdade de Medicina da Universidade de Lisboa
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

Comunidad Valenciana
PATERNA
Molecular diagnosis of autosomal dominant severe congenital neutropenia (ELANE gene / complete sequencing)
IMEGEN - Instituto de Medicina Genómica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

Comunidad Valenciana
PATERNA
Molecular diagnosis of autosomal dominant severe congenital neutropenia (ELANE gene)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Comunidad Valenciana
SANT JOAN D'ALACANT
Molecular diagnosis of autosomal dominant severe congenital neutropenia (ELANE, GFI1 genes / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Molecular diagnosis of severe congenital neutropenia, type 2, AD (GFI1 gene: sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

Comunidad Valenciana
ELCHE
Diagnosis of autosomal dominant severe congenital neutropenia (ELANE gene)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ILE-DE-FRANCE
PARIS
Diagnosis of neutropenia (Panel)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

Észak-Magyarország
DEBRECEN
Molecular diagnosis of severe congenital neutropenia (ELANE,HAX1, GFI1, CSF3R, G6PC3 genes)
University of Debrecen
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
ELCHE
Diagnosis of severe congenital neutropenia (gene panel)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ILE-DE-FRANCE
CRÉTEIL
Neonatal neutropenias : search for antibodies, identification
EFS Ile de France - Site Henri Mondor
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Immunology

Stockholms läns landsting
STOCKHOLM
Molecular diagnosis of cyclic/congenital neutropenia (ELA2 gene)
Karolinska University Hospital - Clinical Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Stockholms läns landsting
STOCKHOLM
Molecular diagnosis of cyclic/congenital neutropenia (HAX1 gene)
Karolinska University Hospital - Clinical Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Niedersachsen
HANNOVER
Molecular diagnosis of severe congenital neutropenias (ELANE, G6PC3, HAX1 and CSF3R genes)
Medizinische Hochschule Hannover
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SLOVENIA
LJUBLJANA
Molecular diagnosis of Neutropenia severe congenital (ELA2 gene)
University Medical Centre Ljubljana
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
PETAH TIKVA
Molecular diagnosis of severe congenital neutropenia (ELANE, HAX1, GFI1, G6PC3, WAS and CSF3R gene sequencing)
Schneider Children's Medical Center of Israel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of severe congenital neutropenia (HAX1, CSF3R, ELANE, GFI1, JAGN1, VPS45 genes)
Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

LOMBARDIA
BRESCIA
Molecular diagnosis of severe congenital neutropenia (ELANE, HAX1, GFI1, G6PC3 genes)
Azienda Ospedaliera Spedali Civili di Brescia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Baden-Württemberg
ULM
Immunological diagnosis of primary immunodeficiencies (PID) - Immunophenotyping including adhesion molecules
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Immunology

Lodz
LODZ
Molecular diagnosis of congenital neutropenia (ELANE, HAX1, CXCR4, GFI1, WAS genes: sequencing)
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

TOSCANA
FIRENZE
Molecular diagnosis of cyclic/congenital neutropenia (ELA2 gene)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

OOST-VLAANDEREN
GENT