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FRANCE

ILE-DE-FRANCE
CRÉTEIL

Accreditation
Diagnosis of alpha-thalassemia (HBA1 and HBA2 genes)
Hôpitaux Universitaires Henri Mondor
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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of alpha-thalassemia (HBA1 and HBA2 genes)
CHU de Marseille - Hôpital de la Timone
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, PCR based techniques, MLPA based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of alpha-thalassemia (HBA1 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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

OUTRE-MER
POINTE À PITRE

Accreditation
Diagnosis of alpha-thalassemia (HBA1 and HBA2 genes)
CHU de la Guadeloupe
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of alpha-thalassemia (HBA1, HBA2 genes)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
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

GERMANY

Bayern
MÜNCHEN

Accreditation
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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of alpha-thalassemia (gene panel)
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

GERMANY

Bayern
MARTINSRIED/PLANEGG

Accreditation
Diagnosis of alpha-thalassemia (HBA1, HBA2 genes)
MVZ Martinsried GmbH
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) : Sanger sequencing, PCR based techniques, MLPA based techniques

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of hemoglobinopathies (HBA1, HBA2, HBB, HBD, HBG1, HBG2 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Diagnosis of alpha thalassemia (HBA1 and HBA2 gene)
Institut für Medizinische & Molekulare Diagnostik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Alpha-Thalassemia (HBA1 and HBA2 gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
MÜNSTER

Accreditation
Diagnosis of alpha-thalassemia (HBA1, HBA2 genes)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Diagnosis of hemoglobinopathies (HBA1 gene: sequencing / MLPA; HBB gene: sequencing)
Diagenom GmbH
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

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Molecular diagnosis of Alpha and Beta Thalassemia (hemoglobin alpha and beta)
Manchester University NHS Foundation Trust - Manchester Royal Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular diagnosis of Alpha-Thalassemia (HBA gene: multiplex gap PCR for common single and double gene deletion mutations -alpha3.7, -alpha4.2, --SEA, --MED, --FIL, -alpha20.5)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR 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

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation
Diagnosis of alpha thalassemia (HBA1 and HBA2 genes)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

SWITZERLAND

Suisse Alémanique
AARAU

Accreditation
Molecular diagnosis of alpha thalassemia (HBA1 & HBA2 genes)
Kantonsspital Aarau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Molecular diagnosis of Alpha-thalassemia (HBA1 gene)
University Hospital of Wales
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

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular diagnosis of alpha and beta thalassemia (HBA1, HBA2, HBB genes)
Unilabs Lausanne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Alpha-Thalassemia (HBA1 and HBA2 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Diagnosis of alpha-thalassemia (HBA1, HBA2 genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of hemoglobinopathies (HBA1, HBA2, HBB, HBG1, HBG2 genes)
Pränatal-Medizin München MVZ GmbH
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

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of hemoglobinopathies (HBB gene)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis, Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of alpha-thalassemia (HBA1, HBA2 genes)
Labor Lademannbogen
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

AUSTRIA

WIEN
WIEN

Accreditation
Molecular diagnosis of Alpha-thalassemia (HBA1 and HBA2 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

SPAIN

Cataluña
VILADECAVALLS

Accreditation
Diagnosis of alpha-thalassemia (HBA1, HBA2 genes)
Catlab
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of alpha-thalassemia (HBA1 and HBA2 genes)
CHU Paris - Hôpital Robert Debré
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, PCR based techniques, MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation
Diagnosis of alpha-globin cluster abnormalities (HBA1 and HBA2 genes)
Centre de Biologie et de Pathologie Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation
Diagnosis of rare red blood cell enzymopathies and membranopathies (Panel)
Centre de Biologie et de Pathologie Est
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)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of alpha-thalassemia (HBA1 gene)
Cliniques universitaires Saint-Luc - UCLouvain
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

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of Alpha-thalassemia (HBA1 and HBA2 genes)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

HAUTS-DE-FRANCE
AMIENS

Accreditation
Diagnosis of alpha thalassemia (HBA1 and HBA2 genes)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), PCR based techniques, MLPA based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of hyperrefine hemoglobins (Panel)
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) : NGS sequencing (except WES), Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation
Diagnosis of hyperrefine hemoglobins (HBA1, HBB2 and HBB genes)
Centre de Biologie et de Pathologie Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of constitutional hemolysis (Panel EKTA)
AP-HP.Université Paris Saclay - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Molecular diagnosis of alpha-thalassemia (HBA1 and HBA2 genes)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

IRELAND

County Dublin
DUBLIN

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

GERMANY

Baden-Württemberg
SINGEN /HTWL.

Accreditation
Diagnosis of alpha-thalassemia (HBA1, HBA2 genes: sequencing/MLPA)
MVZ Laborärzte Singen GbR
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

BELGIUM

LIEGE
LIEGE

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

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Hemoglobin Disorders (Hemoglobin: IEF and HPLC, whole blood)
CHU de Liège - Site du Sart Tilman
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Ontario
HAMILTON

Accreditation
Molecular Diagnosis of Alpha Thalassemia (HBA1, HBA2 targeted PCR and sequencing)
McMaster University Medical Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

ITALY

PIEMONTE
TORINO

Molecular diagnosis of alpha thalassemia (HBA1 and HBA2 genes)
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

CAMPANIA
NAPOLI

Diagnosis of thalassemiae (HBA1, HBA2, HBB, HBD genes)
Biotecnologie Avanzate Srl
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

ITALY

VENETO
VERONA

Molecular diagnosis of alpha thalassemia (HBA1 and HBA2 genes)
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Roma
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. Sant'Anna - 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

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

GERMANY

Berlin
BERLIN

Diagnosis of hemoglobinopathies (HBA1, HBA2, HBB genes)
Labor Medicover Humangenetik Berlin Lichtenberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

TURKEY

TURKEY
ISTANBUL

Prenatal and postnatal molecular diagnosis of alpha thalassemia (HBA gene)
Acibadem healthcare group
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of alpha-talassemia (HBA1, HBA2 genes)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LIGURIA
GENOVA

Molecular diagnosis of hemoglobin diseases and thalassemia (HBA1, HBA2, HBB genes)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of alpha thalassemia (HBA1 gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LOMBARDIA
MONZA

Molecular diagnosis of alpha-thalassemia (HBA1 and HBA2 genes)
ASST Monza - Ospedale San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

BASILICATA
MATERA

Postnatal molecular diagnosis of alpha and beta thalassemia (HBA1, HBA2, HBB genes)
Presidio Ospedaliero "Madonna delle Grazie" - Azienda Sanitaria di Matera (ASM)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Andalucía
MÁLAGA

Diagnosis of alpha-thalassemia (HBA1, HBA2 genes)
IMEGEN - Delegación Málaga
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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of alpha-thalassemia (HBA1, HBA2 genes)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of alpha-thalassemia (HBA1 and HBA2 deletion and duplication by MLPA)
Genetiks - Genetic diagnosis and research center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of alpha-thalassemia (HBA1 and HBA2 genes)
LabGenetics - Laboratorio de Genética Clínica, S.L.
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

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of alpha-thalassemia and related diseases (HBA1 and HBA2 genes)
Sistemas Genómicos S.L.
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

GERMANY

Hamburg
HAMBURG

Diagnosis of alpha-thalassemia (HBA1, HBA2 genes: sequencing/MLPA)
Gemeinschaftspraxis für Humangenetik GbR
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

GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of alpha thalassemia (HBA1 gene)
Zotz|Klimas Standort Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of alpha-thalassemia (HBA1, HBA2 genes)
Hospital Clínico Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Madrid
MADRID

Diagnosis of alpha-thalassemia and related disorders (HBA1, HBA2 genes)
Hospital Clínico San Carlos
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

SPAIN

Comunidad Valenciana
ALICANTE

Diagnosis of alpha-thalassemia (HBA1, HBA2 genes)
Instituto Bernabeu Biotech
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ITALY

SICILIA
AVOLA

Diagnosis of alpha thalassemia (HBA1 and HBA2 genes)
Laboratori Campisi s.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of Alpha Thalassemia (PCR analysis of HBA)
BC Women's Hospital and Health Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of alpha-thalassemia (HBA2 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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)

GERMANY

Rheinland-Pfalz
MAINZ

Diagnosis of alpha-thalassemia (HBA1, HBA2 genes)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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

SPAIN

Cataluña
BARCELONA

Diagnosis of alpha-thalassemia and related diseases (HBA1, HBA2 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) : 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

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of idiopathic intellectual disability, autism, growth delay, and / or multiple congenital anomalies (qChip« Post)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

ITALY

LOMBARDIA
MONZA

Diagnosis of alpha-thalassemia (HBA1, HBA2 genes)
Synlab ITALIA srl
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

AUSTRIA

WIEN
WIEN

Diagnosis of hemoglobinopathies (HBA1, HBA2, and HBB gene)
Hanusch Krankenhaus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

ITALY

UMBRIA
PERUGIA

Molecular diagnosis of alpha and beta-thalassemia (alpha, beta globin)
Università degli Studi di Perugia - Ospedale S. Maria della Misericordia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

ITALY

CALABRIA
CATANZARO

Biochemical and molecular diagnosis of hemoglobinopathies (HBA1, HBA2, HBB genes)
Azienda Ospedaliera Pugliese Ciaccio
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

SUL
LISBOA

Molecular diagnosis of hemoglobinopathies (HBA1, HBA2 and HBB genes)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

CENTRO
COIMBRA

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

ITALY

SARDEGNA
CAGLIARI

Molecular diagnosis of alpha, beta, gamma and delta thalassemia
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

ITALY

PUGLIA
LECCE

Molecular diagnosis of alpha and beta thalassemia (HBA and HBB genes)
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Haemoglobin Structural Variants (including haemoglobin electrophoresis and phenotypic characterisation)
King's College Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

CYPRUS

Cyprus
NICOSIA

Molecular diagnosis of hemoglobinopathies (HBA1, HBA2 and HBB genes)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Molecular diagnosis of alpha thalassemia (HBA1 & HBA2 genes)
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of alpha, beta and delta-thalassemia (HBA1, HBA2, HBB, HBD genes)
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
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) : Sanger sequencing, PCR based techniques, MLPA based techniques

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of alpha and beta thalassemia (HBA1, HBA2, HBB genes)
Azienda Ospedaliera "A. Cardarelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Oxfordshire
OXFORD

Molecular diagnosis of Alpha-Thalassaemia (Detection of deletions using Gap-PCR and MLPA and detection of nondeletion alpha+ mutations by sequencing HBA1, HBB genes)
John Radcliffe Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

UNITED KINGDOM

Oxfordshire
OXFORD

Molecular diagnosis of abnormal Haemoglobins (Identification by ARMS testing or alpha- and beta-globin gene sequencing)
John Radcliffe Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Alpha-Thalassaemia (HBA1 and HBB genes)
Haemoglobinopathy Genetics Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of abnormal Haemoglobins (HBA1, HBA2 and HBB, HBD, HBG1, HBG2 genes)
Haemoglobinopathy Genetics Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CYPRUS

Cyprus
NICOSIA

Molecular and biochemical diagnosis of alpha-thalassemia (HBA1 and HBA2 genes)
Archbishop Makarios III hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of alpha-thalasemia (HBA1, HBA2 genes)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

TURKEY

TURKEY
SÝVAS

Molecular diagnosis of Alpha-thalassemia (HBA1 and HBA2 genes)
Cumhuriyet Üniversitesi Týp Fakültesi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NORTH MACEDONIA

NORTH MACEDONIA
SKOPJE

Molecular diagnosis of hemoglobinopathies (HBA1, HBA2 and HBB genes)
Macedonian Academy of Sciences and Arts
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Alpha-Thalassaemia (including globin chain synthesis)
King's College Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

ITALY

LOMBARDIA
BRESCIA

Molecular diagnosis of alpha thalassemia (HBA1 and HBA2 genes)
Università degli Studi di Brescia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Prenatal and postnatal molecular diagnosis of alpha-thalassemia (HBA1 and HBA2 genes)
Mitera General, Maternity and Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Molecular diagnosis of alpha-thalassemia (HBA1 and HBA2 genes)
Bioiatriki S.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

IRAKLIO
HERAKLION

Molecular diagnosis of alpha-thalassemia (HBA1 and HBA2 genes: detections of 21 mutations by PCR)
DNA analysis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of alpha-thalassemia (HBA1 and HBA2 genes:deletion and sequencing analyses)
Schneider Children's Medical Center of Israel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

ITALY

SICILIA
MESSINA

Molecular diagnosis of thalassemias (HBA1, HBA2, HBB, HBD genes)
A.O.U. Policlinico "G. Martino"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of hemoglobinopathies (HBA1, HBA2, HBB genes)
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
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) : Sanger sequencing, PCR based techniques, MLPA based techniques

ITALY

SARDEGNA
OZIERI

Molecular diagnosis of hemoglobinopathies (HBA1, HBA2, HBB, HBD, HBG1, HBG2 genes)
Presidio Ospedaliero di Ozieri - ASL 1
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Québec
MONTRÉAL

Molecular diagnosis of alpha-thalassemia (HBA genes: deletion mutations -alpha3.7, -alpha4.2, -alpha20.5, --SEA, --MED, --FIL, THAI by PCR)
Centre hospitalier universitaire Sainte-Justine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR 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

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Alpha-thalassemia (HBA1 gene)
Hammersmith Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Berlin
BERLIN

Diagnosis of alpha-thalassemia (HBA1 gene)
IFLb Laboratoriumsmedizin Berlin GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
ULM

Diagnosis of hemoglobinopathies (HBA1, HBA2, HBB, HBD, HBG1, HBG2 genes)
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Hematology
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of alpha-thalassemia (HBA1 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Diagnosis of Alpha-thalassemia (HBA1 and HBA2 genes)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing