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GERMANY

Baden-Württemberg
ULM

Accreditation
Molecular diagnosis of familial disseminated atypical mycobacterial infection/ BCG infection (IFNGR1 gene)
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of familial atypical mycobacterial infection/ BCG infection (IFNGR1, IL12B, STAT1 genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Primary Immunodeficiency (gene panel; PID00v17.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Molecular diagnosis of mendelian susceptibility to atypical mycobacteria (IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, RORC and STAT1 genes)
Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Baden-Württemberg
ULM

Accreditation
Molecular diagnosis of familial atypical mycobacterial infection/ BCG infection (IFNGR1, IFNGR2, IL12B, IL12RB1, STAT1 genes)
DRK Baden-Württemberg/ Hessen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Molecular diagnosis of Mendelian susceptibility to atypical mycobacteria (IFNGR1, IFNGR2, IL12RB1, IL 12P40(B), TYK2, STAT1 and IKBKG: sequencing)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Molecular diagnosis of susceptibility to Familial Atypical Mycobacteriosis (IKBKG, IFNGR1, IFNGR2, IL12RB1, IL12B genes: Sequencing of the entire coding region of gene (s))
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of hereditary immune deficiencies (Panel)
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)

SPAIN

Cataluńa
BARCELONA

Diagnosis of mendelian susceptibility to atypical mycobacteria (IL12RB1 gene)
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

HUNGARY

Közép-Magyarország
DEBRECEN

Molecular diagnosis of mendelian susceptibility to mycobacterial disease (IL12B, IL12RB1, IFNGR1, IFNGR2 genes)
University of Debrecen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LOMBARDIA
BRESCIA

Molecular diagnosis of susceptibility to atypical mycobatteria (STAT1, IFNGR1, IFNGR2 genes)
ASST Spedali Civili di Brescia
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

GERMANY

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

ITALY

TOSCANA
FIRENZE

Molecular diagnosis of susceptibility to atypical mycobatteria (IFNGR1, IFNGR2 genes)
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

BELGIUM

OOST-VLAANDEREN
GENT

Immunochemical diagnosis of TLR signaling defect (cytokine production IL6, IL1beta, IL10 upon stimulation with TLR ligands)
Ghent University Hospital - UZ Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Immunology
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

BELGIUM

OOST-VLAANDEREN
GENT

Immunochemical and molecular diagnosis of Mendelian Susceptibility to Mycobacterial Diseases (IL12Rb1 expression, STAT-phosphorylation upon IL12 and IFNg stimulation, IFNg secretion)
Ghent University Hospital - UZ Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Immunology
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry