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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation
Diagnosis of hemophilia A (intron 22 inversion and study of the complete F8 gene)
Laboratoire Cerba
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

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Diagnosis of hemophilia A and B (F8 and F9 genes)
CHU de Nantes - Institut de Biologie
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, Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Microsatellite analysis

FRANCE

NORMANDIE
CAEN

Accreditation
Diagnosis of hemophilia A (F8 gene)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : 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

ITALY

TOSCANA
FIRENZE

Accreditation
Molecular diagnosis of hemophilia (F8 gene)
Azienda Ospedaliero Universitaria Careggi
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
Technique(s) : NGS sequencing (except WES)

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Diagnosis of hemophilia A (F8 gene)
Hôpitaux Universitaires de Genève HUG
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) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

AUSTRIA

WIEN
WIEN

Accreditation
Molecular diagnosis of Hemophilia A (F8 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

UNITED KINGDOM

Nottinghamshire
NOTTINGHAM

Accreditation
Carrier and prenatal molecular diagnosis of Haemophilia A (F8 gene: full gene mutation analysis by sequencing, PCR of introns 1 and 22 inversions and dosage analysis using MLPA)
Queen's Medical Centre
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of hemophilia A (F8 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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Hemophilia A (Factor VIII)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Hemophilia A (F8 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
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

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Hemophilia A (F8 gene (incl. INV1 and INV22))
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Prenatal molecular diagnosis of Haemophilia A (F8 gene: detection of known mutations, full gene mutation analysis, PCR of introns 1 and 22 inversions, gene linkage and dosage analysis using MLPA)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

CENTRE-VAL DE LOIRE
TOURS

Accreditation
Diagnosis of hemophilia A (F8 gene)
CHRU de Tours - Hôpital Bretonneau
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

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of hemophilia A (F8 gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Hematology
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

GERMANY

Bayern
WÜRZBURG

Accreditation
Diagnosis of hemophilia A (F8 gene)
Universität Würzburg - Biozentrum
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, PCR based techniques, MLPA based techniques

GERMANY

Nordrhein-Westfalen
MÜNSTER

Accreditation
Diagnosis of hemophilia A and B
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

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation
Diagnosis of hemophilia A (F8 gene)
Centre de Biologie et de Pathologie Est
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

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of hemophilia A (F8 gene: targeted mutation analysis)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Diagnosis of hemophilia A (F8 gene: sequencing/ MLPA)
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

GERMANY

Hessen
FRANKFURT AM MAIN

Accreditation
Diagnosis of hemophilia A and B (F8 and F9 genes: sequencing, MLPA)
bio.logis Zentrum für Humangenetik
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

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of hemophilia A (F8 gene)
UZ Leuven - Campus Gasthuisberg
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

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular diagnosis of Haemophilia A (F8 gene: intron 22 and 1 inversions, full sequencing of coding region and MLPA)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Accreditation
Diagnosis of hemophilia A (F8 gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Molecular diagnosis of Haemophilia A (F8 gene)
Manchester University NHS Foundation Trust - Manchester Royal Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
HANNOVER

Accreditation
Diagnosis of hemophilia (F8, F9 genes)
amedes genetics im MVZ wagnerstibbe
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

Sachsen
DRESDEN

Accreditation
Diagnosis of hemophilia A and B (F8, F9 genes: Sequenzierung, MLPA, fragment length analysis)
MVZ Mitteldeutscher Praxisverbund Humangenetik 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
MARTINSRIED

Accreditation
Diagnosis of hemophilia A and B (F8 and F9 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of hemophilia A and B (F8 and F9 genes)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of hemophilia A (F8 gene)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), PCR based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of hemophilia (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
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) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of hemophilia (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
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) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

GERMANY

Nordrhein-Westfalen
DUISBURG

Accreditation
Diagnosis of hemophilia A (F8 gene)
Gerinnungszentrum Rhein-Ruhr
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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of rare coagulation disorders (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), Sanger sequencing

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of Hemophilia A (F8 gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of Willebrand disease (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of hematopoietic defects (NGS screening panel: 183 genes)
CeGaT GmbH
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)

FRANCE

ILE-DE-FRANCE
BOULOGNE-BILLANCOURT

Accreditation
Diagnosis of congenital deficits of coagulation factors and fibrinolysis (Panel)
CHU Paris IdF Ouest - Hôpital Ambroise Paré
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
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) : NGS sequencing (except WES)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Pre-natal and post-natal diagnosis of severe hemophilia A and detection of symptomatic form of hemophilia A in female carriers (search for intron 22 and intron 1 inversions in the F8 gene performed by the Inverse Shifting-PCR based approaches)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of hereditary thrombophilia (Panel)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of severe hemophilia A (Search for inversions of intron 22 and intron 1)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Carrier and prenatal molecular diagnosis of Haemophilia A (F8 gene: introns 22 and 1, full mutation screening and MLPA)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : MLPA based techniques

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Haemophilia A (antenatal diagnosis, post-natal diagnosis, pre-symptomatic diagnosis, risk assessment) by targetted mutation analysis, DNA sequence analysis (select exons / entire coding region) and copy number analysis (MLPA / QF-PCR / QMPSF) - (F8 gene)
St Thomas' Hospital
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal 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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
BONN

Accreditation
Diagnosis of hemophilia A and B (F8 and F9 gene)
Universitätsklinikum Bonn (AöR)
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

Oxfordshire
OXFORD

Accreditation
Carrier and prenatal molecular diagnosis of Haemophilia A (F8 gene: direct sequencing of gene mutations, PCR of introns 1 and 22 inversions and dosage analysis using MLPA)
Churchill Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Greater London
LONDON

Accreditation
Carrier and prenatal molecular diagnosis of Haemophilia A (F8 gene: introns 22 and 1 and full mutation screening)
Royal Free Hospital
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Molecular diagnosis of Haemophilia A (F8: common inversions, sequencing and dosage analysis)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

IRELAND

County Dublin
DUBLIN

Accreditation
Molecular diagnosis of Haemophilia A (F8 gene: mutation analysis)
St James's Hospital
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)

CANADA

Ontario
KINGSTON

Accreditation
Molecular Diagnosis of Hemophilia A (F8 inversion testing)
Kingston General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Hemophilia A (F8 c.6104T>C mutation)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Diagnosis of hemophilia type A and B (F8, F9 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

SPAIN

Cataluña
BARCELONA

Diagnosis of hemophilia (F8 and F9 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, Cytogenetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Uniparental disomy study, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques, Microsatellite analysis

ITALY

LAZIO
ROMA

Molecular diagnosis of hemophilia (F8, F9 genes)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

SARDEGNA
CAGLIARI

Molecular diagnosis of hemophilia A (F8 gene)
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

EMILIA ROMAGNA
PARMA

Diagnosis of hemophilia A (F8 gene)
Azienda Ospedaliero-Universitaria di Parma
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) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of hemophilia A and B (F8 and F9 genes)
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Jylland
AARHUS

Molecular diagnosis of hemophilia A
Klinisk Genetisk Afdeling - Aarhus Universitetshospital - Skejby
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

TURKEY

TURKEY
ISTANBUL

Prenatal and postnatal molecular diagnosis of haemophilia A
Acibadem healthcare group
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of the hemophilia A (F8 gene)
Sistemas Genómicos S.L.
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

SPAIN

Cataluña
BARCELONA

Diagnosis of hemophilia A (F8 gene; SNP array)
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of hemophilia A (F8 gene)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, MLPA based techniques

POLAND

Poznan
POZNAN

Molecular diagnosis of hemophilia A (F8 gene: intron 22 inversion)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Diagnosis of hemophilia (F8, F9 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

SPAIN

La Rioja
LOGROÑO

Diagnosis of hemophilia A (F8 gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of hemophilia A (F8 gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of hemophilia A (F8 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Hemophilia A (F8 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hemophilia A (F8 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
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, MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of hemophilia A (F8 gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

BRETAGNE
RENNES

Diagnosis of hemophilia A and B (hemostasis and F8, F9 genes)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Hematology
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, PCR based techniques

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular and biochemical diagnosis of hemophilia A and B (F8 and F9 genes)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

EMILIA ROMAGNA
FERRARA

Molecular biology of hemophilia A and B (F8 and F9 genes)
Università degli Studi di Ferrara - Arcispedale "S. Anna"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

SICILIA
PALERMO

Molecular diagnosis of hemophilia A and B (F8 and F9 genes)
Azienda Ospedaliera Ospedali Riuniti "Villa Sofia-Cervello" - Presidio Cervello
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

CENTRO
COIMBRA

Molecular diagnosis of hemophilia A and B (FVIII and FIX genes)
Hosp. Pediátrico e Hosp. Covões - Centro Hospitalar e Universitário de Coimbra
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

SUL
LISBOA

Molecular diagnosis of hemophilia A and B (FVIII and FIX gene)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

South Moravia
BRNO

Molecular diagnosis of hemophilia A (FVIII gene)
University hospital Brno
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Prenatal and postnatal molecular diagnosis of hemophilia A and B (F8 and F9 genes)
Genexpress Ltd.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

CYPRUS

Cyprus
NICOSIA

Molecular diagnosis of hemophilia (F8 and F9 genes)
Karaiskakio foundation
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BULGARIA

 South-West region
SOFIA

Molecular diagnosis of hemophilia A and B
GENICA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVENIA

SLOVENIA
LJUBLJANA

Molecular diagnosis of Haemophilia A (F8 gene)
University Medical Centre Ljubljana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

LEBANON

Beyrouth
BEIRUT

Molecular diagnosis of hemophilia A (search for deletions and inversions /complete F8 gene sequencing)
Université Saint-Joseph
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

SERBIA

Serbia
BELGRADE

Prenatal and postnatal molecular diagnosis of hemophilia A (F8 gene: inversion of int1 and int22)
Mother and Child Health Institute of Serbia "Dr Vukan Cupic"
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of hemophilia A (F8 gene)
IHBT - Institute of hematology and blood transfusion
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Lothian
EDINBURGH

Carrier and prenatal molecular diagnosis of Haemophilia A (F8 gene: introns 22 and 1 and full mutation screening)
The Royal Infirmary of Edinburgh
Purpose(s) : Antenatal 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

UNITED KINGDOM

South Glamorgan
CARDIFF

Carrier and prenatal molecular diagnosis of Haemophilia A (F8 gene: introns 22 and 1 and full mutation screening)
University Hospital of Wales
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Carrier and prenatal molecular diagnosis of Haemophilia A (F8 gene: introns 22 and 1 and full mutation screening)
Belfast City Hospital
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of hemophilia A (F8 gene)
Hospital Universitario y Politécnico La Fe
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

CANADA

Québec
MONTRÉAL

Molecular diagnosis of Hemphillia A (F8 gene: inversion 22 by PCR, sequencing of gene mutations, gene linkage study)
Centre hospitalier universitaire Sainte-Justine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

PORTUGAL

NORTE
PORTO

Molecular diagnosis of hemophilia A (F8 gene: sequencing of entire coding region and deletion/duplication analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

CANADA

Alberta
CALGARY

Molecular Diagnosis of Hemophilia A (F8)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

ITALY

LIGURIA
GENOVA

Diagnosis of hemophilia A (F8 gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Hematology
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), PCR based techniques, MLPA based techniques