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GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of hemoglobinopathies (HBA1, HBA2, HBB genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Biochemical diagnosis of Hemoglobinopathy (Electrophoresis and HPLC analysis of Hemoglobin)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Molecular diagnosis of Haemoglobin M with anaemia (HBA1, HBA2 and HBB genes)
University Hospital of Wales
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 hemoglobinopathies (HBA1, HBA2, HBB, HBG1, HBG2 genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Accreditation
Diagnosis of hemoglobin C, D, E and M diseases (HBA1, HBA2, HBB genes)
CHU Henri Mondor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

IRELAND

County Dublin
DUBLIN

Accreditation
Diagnosis of Sickle Cell Anemia and Haemoglobinopathies
St James's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Hematology

BELGIUM

LIEGE
LIEGE

Accreditation
Neonatal screening: Biochemical diagnosis of Hemoglobin Disorders (Hemoglobin variants and B-Thalassemia: tandem MS, bloodspots)
CHU Sart Tilman - Liège
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of hemoglobinopathies (HBA1, HBA2, HBB, HBG1, HBG2 genes)
Ospedale Maggiore Policlinico - Clinica Mangiagalli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of alpha and beta thalassemia and hemoglobinopathies (HBA1, HBA2, HBB, HBD, HBG1, HBG2 genes)
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
Purpose(s) : Antenatal diagnosis, 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) : Sanger sequencing, PCR based techniques, MLPA based techniques

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of hemoglobinopathies (HBA1, HBA2, HBB genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

PORTUGAL

CENTRO
COIMBRA

Molecular diagnosis of hemoglobinopathy (HBA, HBB, HBD, HBG genes)
Hosp. Pediátrico e Hosp. Covões - Centro Hospitalar e Universitário de Coimbra
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of rare constitutional anemia (gene panel)
BLOODGENETICS S.L
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES)

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Diagnosis of rare variants of hemoglobin (HBA1, HBA2, HBB, HBD genes)
Centre de Biologie et de Pathologie Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of Hemoglobin M disease (HBA1, HBB and HBA2 genes)
CHU de Montpellier - Hôpital Saint-Eloi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
BARCELONA

Diagnosis of genetic hemoglobinopathy (HBA1, HBA2, HBB genes)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
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

ITALY

LAZIO
ROMA

Biochemical and molecular diagnosis of hemoglobin disease (genes: ATRX, BCL11A, CYB5R3, ERCC2, GATA1, HBA1, HBA2, HBB, HBD, HBG1, HBG2, KLF1)
Centro Studi Microcitemie di Roma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

AUSTRIA

WIEN
WIEN

Molecular diagnosis of hemoglobinopathies (HBA1, HBA2 and HBB genes)
Krankenanstalt Rudolfstiftung
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Molecular diagnosis of Hemoglobinopathies (HbC, HbD, HbE, HbH, HbS, HbO, ...)
Cliniques Universitaires UCL Saint-Luc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Hampshire
SOUTHAMPTON

Biochemical diagnosis of Haemoglobin M with anaemia (by HPLC: HBA1, HBA2 and HBB genes)
Southampton General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Haemoglobin M with anaemia (HBA1, HBA2 and HBB genes)
King's College Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Haemoglobin M with anaemia (HBA1, HBA2 and HBB genes)
Hammersmith Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics