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

ILE-DE-FRANCE
PARIS
Diagnosis of intellectual deficiency and congenital malformation (cryptic subtelomeric and intercalated anomalies by array CGH)
Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques

VLAAMS BRABANT
LEUVEN
Molecular cytogenetic test for Fanconi anemia
UZ Leuven - Campus Gasthuisberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Chromosomal instability
Technique(s)
: Chromosome breakage analysis

Suisse Romande
LAUSANNE
Search of genomic DNA duplications and/or deletions by array-CGH
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: Array based techniques

Suisse Romande
GENÈVE
Search of duplications and/or deletions by array-CGH
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Cytogenetics
Objective(s)
: Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s)
: Array based techniques, FISH

Suisse Romande
GENÈVE
Ashkenazes carrier screening (ASHPLEX 1, ASHPLEX 2, ASHPLEX Gaucher)
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Sachsen
DRESDEN
Diagnosis of Fanconi anemia (NGS screening panel, 16 genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Suisse Alémanique
SCHLIEREN
Search of genomic DNA duplications and/or deletions by CGH arrays / chromosomal microarrays
Universität Zürich
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: Array based techniques

Bayern
WÜRZBURG
Diagnosis of Fanconi anemia (BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2 genes)
Universität Würzburg - Biozentrum
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Other
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Noord-Holland
AMSTERDAM
Diagnosis of Fanconi Anemia (BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCL, FANCM, FANCI, PALB2 and RAD51C gene)
Amsterdam UMC, locatie VUmc
Purpose(s)
: Antenatal 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

South Glamorgan
CARDIFF
Cytogenetic diagnosis of Fanconi Anaemia (by chromosome breakage studies)
University Hospital of Wales
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: Karyotyping

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of Fanconi Anaemia (by searching chromosomal breakpoints)
CHU de Lyon HCL - GH Est
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: Karyotyping

Tartu
TARTU
Molecular screening of frequent diseases in Ashkenazi Jewish populations (panel)
Asper Biogene
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
MANNHEIM
Diagnosis of Fanconi anemia (BRCA2, BRIP1, FANCC, FANCD2, PALB2, RAD51C genes)
Zentrum für Humangenetik Mannheim
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

Comunidad Valenciana
PATERNA
Diagnosis of Fanconi anemia (FANCA gene)
Sistemas Genómicos S.L.
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

West Midlands
BIRMINGHAM
Cytogenetic diagnosis of Fanconi Anaemia (by chromosome breakage analysis)
Birmingham Women's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: Karyotyping

South Yorkshire
SHEFFIELD
'Molecular diagnosis of Fanconi Anaemia (FANCA, FANCC & FANCG: sequencing of coding regions; dosage analysis of FANCA)'
Sheffield Children's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Grampian
ABERDEEN
Cytogenetic diagnosis of Fanconi Anaemia (by chromosome breakage analysis)
Aberdeen Royal Infirmary, Polwarth Building
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: Karyotyping

Avon
BRISTOL
Cytogenetic diagnosis of Fanconi Anaemia (by chromosome breakage analysis)
Southmead Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: Karyotyping

Suisse Alémanique
AARAU
Molecular diagnosis of RAD51C related diseases (RAD51C gene: sequencing and deletion analysis)
Kantonsspital Aarau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis

BRETAGNE
BREST
Diagnosis of dysmorphological syndromes by CGH array
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques

Gelderland
NIJMEGEN
Molecular diagnosis in case of Multiple Congenital Anomalies (SNP-array)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: Array based techniques

Gelderland
NIJMEGEN
Molecular diagnosis in case of Unexplained Intellectual Deficit with Multiple Congenital Anomalies (SNP-array)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: Array based techniques

Oxfordshire
OXFORD
Cytogenetic diagnosis of Fanconi Anaemia
Churchill Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: Karyotyping

Hamburg
HAMBURG
Diagnosis of Fanconi anemia (BRIP1, BRCA2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2 genes)
MVZ Fenner & Krasemann
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
FREIBURG
Diagnosis of Fanconi anemia (FANCA, FANCC 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

Ontario
TORONTO
Molecular Diagnosis of Fanconi Anemia type C (FANCC targeted mutation analysis)
The Hospital for Sick Children and University of Toronto
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Baden-Württemberg
TÜBINGEN
Diagnosis of Fanconi anemia (PALB2 gene)
CeGaT 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

Suisse Alémanique
SCHLIEREN
Molecular diagnosis of Fanconi anemia (MLPA and gene panel BRIP1, BRCA2, FANCA, FANCB, FANCC, FANCD2,FANCF, FANCG, FANCL, PALB2, ERCC4, FANCI, RAD51C, SLX4, FAN1 and FANCM)
Universität Zürich
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

Manitoba
WINNIPEG
Ashkenazi Jewish Panel (targeted mutation analysis of ASPA, FANCC, HEXA, IKBAP)
Health Sciences Centre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of Fanconi anemia (FANCA, FANCC, FANCG, PALB2 genes)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
TÜBINGEN
Diagnosis of Fanconi anemia of complementation group Q (ERCC4 gene)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MÜNCHEN
Diagnosis of Fanconi anemia (BRCA2, BRIP1, FANCA, FANCB, FANCI, PALB2, RAD51C genes)
Pränatal-Medizin München MVZ GmbH
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

GRAND-EST
STRASBOURG
Diagnosis of Cockayne syndrome and related (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s)
: Antenatal diagnosis, 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

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
Diagnosis of susceptibility to tumors (melanoma, pancreas, kidney, breast-ovary, colon, skin cancer) (Panel)
CLCC Jean Perrin
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, PCR based techniques, MLPA based techniques

ILE-DE-FRANCE
PARIS
Diagnosis of predisposition to hemopathies (Panel)
CHU Paris - Hôpital Robert Debré
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)

ILE-DE-FRANCE
PARIS
Diagnosis of Fanconi anemia (Panel)
CLCC Institut Curie
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), Sanger sequencing, MLPA based techniques

NORMANDIE
CAEN
Microsatellite instability detection
Centre François Baclesse
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Uniparental disomy study
Technique(s)
: Microsatellite analysis

Bayern
MÜNCHEN
Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
ULM
Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universitätsklinikum Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Sachsen
DRESDEN
Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Bayern
WÜRZBURG
Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universität Würzburg - Biozentrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of aplastic anemia and related 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)

Tartu
TARTU
Molecular diagnosis of predisposition to breast and ovarian cancer (panel)
Asper Biogene
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
VILLEJUIF
Diagnosis of inherited cancer predisposing syndrome (Panel)
CLCC Institut Gustave Roussy
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

Suisse Romande
SION
Diagnosis of hereditary cancer predisposition (panel)
Institut Central des Hôpitaux (ICH)
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Somatic genetics, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Diagnosis of predipositon to tumor (melanoma, pancreas, kidney, breast-ovary, colon, skin cancer) (Panel)
CLCC Institut Paoli Calmettes
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

Bayern
MÜNCHEN
Diagnosis of mental retardation and dysmorphology (NGS screening panel, 353 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)

Greater Manchester
MANCHESTER
Molecular cytogenetic diagnosis of learning disability, developmental delay, congenital anomalies and dysmorphism syndromes, autism or mild intellectual disability (by conventional karyotype, array or FISH analysis)
St Mary's Hospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s)
: Array based techniques, FISH, Karyotyping

Bayern
NEU-ULM
Diagnosis of familial tumor syndromes (NGS screening panel: 40 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
TÜBINGEN
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)

Baden-Württemberg
TÜBINGEN
Diagnosis of skin diseases (NGS screening panel, 253 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)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of chromosome instability syndromes (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)

Suisse Alémanique
ZÜRICH
Diagnosis of hereditary tumor diseases (Panel - 43 genes)
Genetica AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

NORMANDIE
ROUEN
Diagnosis of rare genetic tumor (Phenotyping in oncogenetics) (Whole exome)
CHU de Rouen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

LIEGE
LIEGE
Diagnosis of predisposition to hereditary cancers (broad panel of 26 genes)
CHU de Liège - Site du Sart Tilman
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

HAUTS-DE-FRANCE
AMIENS
Diagnosis of intellectual disability (Clinical exome)
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), Whole Exome Sequencing (WES)

ILE-DE-FRANCE
PARIS
Diagnosis of intellectual disability (Whole exome)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

ANTWERPEN
ANTWERPEN-EDEGEM
Diagnosis of Fanconi anemia (FANCC gene, hot spot mutation - c.345+4A>T)
Centrum Medische Genetica - UZA
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

ANTWERPEN
ANTWERPEN-EDEGEM
Diagnosis of Fanconi anemia (FANCC gene, hot spot mutation - c.345+4A>T; carrier screening in the Ashkenazi Jewish population)
Centrum Medische Genetica - UZA
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

HAINAUT
GOSSELIES
Diagnostic of hereditary cancers (gene panel)
Institut de Pathologie et de Génétique
Purpose(s)
: 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)

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of inherited cancer-predisposing syndrome (Panel)
Laboratoire Cerba
Purpose(s)
: 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)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

NOUVELLE AQUITAINE
POITIERS
Diagnosis of developmental abnormalities (Whole exome)
CHU de Poitiers
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

OOST-VLAANDEREN
GENT
Diagnosis of Fanconi anemia (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of rare genetic skin diseases (gene panel)
Erasme Hospital - ULB
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Suisse Romande
GENÈVE
Diagnosis of Fanconi anemia (panel)
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of skeletal dysplasia (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of multiple congenital anomalies/dysmorphic syndrome (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
Diagnosis of rare genetic developmental defect during embryogenesis (Whole exome)
Centre de Biologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing, Whole Exome Sequencing (WES)

BRETAGNE
BREST
Diagnosis of intellectual disability (Whole exome)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

GRAND-EST
REIMS
Diagnosis of developmental abnormalities (Whole exome)
CHU de Reims - Hôpital Robert Debré
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

ILE-DE-FRANCE
PARIS
Diagnosis of developmental abnormalities without intellectual disability (Whole exome)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

BOURGOGNE-FRANCHE-COMTE
BESANÇON
Diagnosis of mosaic skin abnormalities (Panel)
CHU de Besançon - Hôpital Jean Minjoz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

ILE-DE-FRANCE
LE CHESNAY
Diagnosis of neurodevelopmental disorders and malformation syndromes (Whole exome)
CH de Versailles - Hôpital André Mignot
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

HAUTS-DE-FRANCE
LILLE
Diagnosis of congenital limb abnormalities (Panel - 1st intention)
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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Nordrhein-Westfalen
DORTMUND
Diagnosis of X-linked intellectual disability (NGS-Screening-Panel, 92 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)
: NGS sequencing (except WES)

BRETAGNE
RENNES
Diagnosis of neurodevelopmental disorders (Whole exome)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

LIEGE
LIEGE
Diagnosis of congenital hematological disorders (gene panel)
CHU de Liège - UniLab Lg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

PAYS DE LA LOIRE
NANTES
Diagnosis of intellectual disability (Whole exome)
CHU de Nantes - Institut de Biologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Greater London
LONDON
Cytogenetic diagnosis of Fanconi Anaemia
Guy's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: Karyotyping

Greater London
LONDON
Molecular diagnosis of Fanconi Anemia, Complementation Group A (FANCA gene: Targetted mutation analysis)
Guy's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Greater London
LONDON
Molecular diagnosis of Fanconi Anemia, Complementation Group C (FANCC gene: Targetted mutation analysis / Testing for known mutations in family members)
Guy's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis

Ontario
TORONTO
Cytogenetic Diagnosis of Fanconi Anemia (MMC/DEB Analysis)
The Hospital for Sick Children
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Chromosomal instability
Technique(s)
: Chromosome breakage analysis

Ontario
LONDON
Molecular Diagnosis of Hereditary Cancer (Comprehensive NGS Panel)
London Health Sciences Centre
Purpose(s)
: 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)

Region Stockholm
SOLNA
Diagnosis of hereditary cancer (Panel - GeneMate)
iCellate Medical AB
Purpose(s)
: Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

ATTIKI
ATHENS
Cytogenetic diagnosis of Fanconi anemia
Diagnostic Genetic Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: Karyotyping

LOMBARDIA
BUSTO ARSIZIO
Cytogenetic diagnosis of Fanconi anemia
Toma Advanced Biomedical Assays S.p.A.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: Karyotyping

TURKEY
ISTANBUL
Prenatal and postnatal molecular diagnosis of Fanconi anemia (FANCA, FANCC genes)
Acibadem healthcare group
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LAZIO
ROMA
Molecular diagnosis of Fanconi anaemia (FANCC gene)
Laboratorio Genoma
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

UMBRIA
PERUGIA
Cytogenetic and molecular cytogenetic diagnosis of Fanconi anaemia
Università degli Studi di Perugia - Ospedale S. Maria della Misericordia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics

Greater London
LONDON
Molecular cytogenetic diagnosis of Fanconi Anaemia (by conventional karyotype and FISH analysis)
Hammersmith Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: FISH, Karyotyping

Groningen
GRONINGEN
Cytogenetic diagnosis of Fanconi anemia
UMCG - Universitair Medisch Centrum Groningen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of Fanconi anemia (FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN genes)
CENTOGENE GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Andalucía
MÁLAGA
Diagnosis of Fanconi anemia (FANCA gene)
Health in Code. 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

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of Fanconi anemia (FANCA, FANCC, FANCG and PALB2 genes)
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

Comunidad Valenciana
VALENCIA
Diagnosis of Fanconi anemia (panel)
Health in Code. Valencia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Comunidad Valenciana
PATERNA
Diagnosis of Fanconi anemia (FANCE gene)
Igenomix Spain
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: PCR based techniques

Comunidad Valenciana
SANT JOAN D'ALACANT
Diagnosis of Fanconi anemia (panel)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Somatic genetics
Specialty(ies)
: Molecular genetics, Cytogenetics
Objective(s)
: Sequence analysis: entire coding region, Chromosomal instability
Technique(s)
: NGS sequencing (except WES), Chromosome breakage analysis

Colombie-Britannique
VANCOUVER
Ashkenazi Jewish Carrier Screening (Founder Mutations in HEXA, IKBKAP, ASPA, FANCC)
BC Women's Hospital and Health Centre
Purpose(s)
: Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Greater Manchester
MANCHESTER
Ashkenazi population testing with Tay-Sachs Disease, Familial Dysautonomia, Canavan Disease, Fanconi Anemia, Mucolipidosis IV, Niemann-Pick Disease, Glycogen Storage Disease and Blooms Syndrome
Elucigene Diagnostics
Purpose(s)
: Somatic genetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

Comunidad Valenciana
ELCHE
Diagnosis of Fanconi anemia (FANCA, FANCB, FANCC, FANCG genes)
Bioarray
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), MLPA based techniques

Alberta
EDMONTON
Molecular Diagnosis of Fanconi Anemia/DNA Repair Disorder - NGS Panel (20 genes)
University of Alberta
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), PCR based techniques, MLPA based techniques, Array based techniques

WIEN
WIEN
Molecular diagnosis of Fanconi anemia (FANCB gene)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
STUTTGART
Ashkenazes carrier screening (ASPA, BLM, FANCC, GBA, HEXA, IKBKAP, MCOLN1, SMPD1 genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
KÖLN
Diagnosis of hereditary kidney disease (NGS screening panel: 411 Gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of BRCA-associated cancer (panel, qCancer BRCAs)
qGenomics
Purpose(s)
: Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Madrid
MADRID
Diagnosis of hereditary cancer (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

LOMBARDIA
PAVIA
Diagnosis of multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Microgenomics S.r.l.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of recessive diseases (panel, qCarrier Plus)
qGenomics
Purpose(s)
: Antenatal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of inherited cancer risk (panel, qCancer Risk Extended)
qGenomics
Purpose(s)
: Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of inherited cancer risk (panel)
ICO Hospitalet - Hospital Duran i Reynals
Purpose(s)
: Post-natal diagnosis, Somatic genetics, 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, Methylation analysis, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

País Vasco
SAN SEBASTIÁN
Diagnosis of Fanconi anemia (panel)
DNA Data
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), MLPA based techniques

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of Fanconi anemia (panel)
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
Technique(s)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of ataxia (panel)
Hospital Sant Joan de Déu Barcelona
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)
: NGS sequencing (except WES)

La Rioja
LOGROÑO
Diagnosis of Fanconi anemia (panel)
Hospital San Pedro
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)

La Rioja
LOGROÑO
Diagnosis of hereditary cancer (panel)
Hospital San Pedro
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)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of dwarfism (panel)
Hospital Sant Joan de Déu Barcelona
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)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of intellectual disability (panel)
Hospital Sant Joan de Déu Barcelona
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)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of microcephaly (panel)
Hospital Sant Joan de Déu Barcelona
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)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of inherited cancer-predisposing syndrome (panel)
Hospital Sant Joan de Déu Barcelona
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)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of rare diseases with defects in DNA-repair (panel)
Hospital Sant Joan de Déu Barcelona
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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of congenital deafness (panel)
Hospital Sant Joan de Déu Barcelona
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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Galicia
A CORUÑA
Diagnosis of Fanconi anemia (panel - 22 genes)
Health In Code. A Coruña
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)

Galicia
A CORUÑA
Diagnosis of genetic cancer (panel - 128 genes)
Health In Code. A Coruña
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)

Comunidad Valenciana
VALENCIA
Diagnosis of Fanconi anemia (panel)
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)

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of developmental abnormalities without intellectual disability (Whole genome sequencing)
GCS AURAGEN
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)

Asturias
OVIEDO
Diagnosis of inherited cancer (panel)
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
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)

Baleares
PALMA DE MALLORCA
Diagnosis of hereditary cancer (panel)
Hospital Universitari Son Espases
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
ULM
Diagnosis of familial tumor syndromes (NGS screening panel: 35 genes)
MVZ Humangenetik Ulm GbR
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)

Baden-Württemberg
ULM
Diagnosis of rare renal diseases (NGS screening panel, 268 genes)
MVZ Humangenetik Ulm GbR
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)

Comunidad Valenciana
PATERNA
Diagnosis of familial cancer (panel)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Pharmacogenetics, Somatic genetics, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

OCCITANIE
MONTPELLIER
Diagnosis of Fanconi anemia (BRCA2 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

LOMBARDIA
PAVIA
Cytogenetic diagnosis of Fanconi anemia
Fondazione IRCCS Policlinico San Matteo
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: Karyotyping

CAMPANIA
NAPOLI
Molecular cytogenetics diagnosis of Fanconi anemia
P.S.I. "Elena d'Aosta"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics

SARDEGNA
CAGLIARI
Molecular diagnosis of Fanconi Anemia (FANCA gene)
Ospedale Regionale per le Microcitemie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Cytogenetic diagnosis of Fanconi anemia (DEB-induced chromosome breakage)
Instituto de Ciências Biomédicas Abel Salazar
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: Karyotyping

ISRAEL
JERUSALEM
Molecular diagnosis of Fanconi anemia type A (FANCA, Mutation analysis, Carrier screening, PGD)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
JERUSALEM
Molecular diagnosis of Fanconi Anemia type C (FANCC, Mutation analysis, Carrier screening, PGD)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
HAIFA
Molecular diagnosis of Fanconi Anemia A (FANCA, Mutation analysis, Carrier screening)
Carmel Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
HAIFA
Molecular diagnosis of Fanconi Anemia C (FANCC, Mutation analysis, Carrier screening)
Carmel Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
REHOVOT
Molecular diagnosis of Fanconi anemia type A (FACA, Mutation analysis, Carrier screening)
Kaplan Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
REHOVOT
Molecular diagnosis of Fanconi Anemia type C (FAC C, Mutation analysis, Carrier screening)
Kaplan Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
HAIFA
Molecular diagnosis of Fanconi anemia type A (FANCA, Mutation analysis, Carrier screening)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
HAIFA
Molecular diagnosis of Fanconi Anemia type C (FANCC, Mutation analysis, Carrier screening)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
RAMAT GAN
Molecular diagnosis of Fanconi anemia type A (FANCA, Mutation analysis, Carrier screening)
Sheba Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
RAMAT GAN
Molecular diagnosis of Fanconi Anemia type C (FANCC, Mutation analysis, Carrier screening)
Sheba Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
PETAH TIKVA
Molecular diagnosis of Fanconi Anemia A (FANCA, Mutation analysis, Carrier screening)
Rabin Medical Center - Beilinson Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
PETAH TIKVA
Molecular diagnosis of Fanconi Anemia C (FANCC, Mutation analysis, Carrier screening)
Rabin Medical Center - Beilinson Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
BEER YAAKOV
Molecular diagnosis of Fanconi Anemia A (FANCA, Mutation analysis, Carrier screening)
Assaf Harofeh Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
BEER YAAKOV
Molecular diagnosis of Fanconi Anemia C (FANCC, Mutation analysis, Carrier screening)
Assaf Harofeh Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
HOLON
Molecular diagnosis of Fanconi Anemia C (FANCC, Mutation analysis, Carrier screening, PGD)
Wolfson Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Serbia
BELGRADE
Cytogenetic diagnosis of Fanconi anemia (diepoxybutane tests for chromosomal breakage)
Mother and Child Health Institute of Serbia "Dr Vukan Cupic"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: Karyotyping

Cataluña
BARCELONA
Diagnosis of Fanconi anemia
IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Cytogenetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Chromosomal instability
Technique(s)
: Sanger sequencing, Chromosome breakage analysis

ISRAEL
PETAH TIKVA
Molecular diagnosis of Fanconi anemia (FANCD2, FANCA, FANCG, FANCC, FANCJ, FANCN and BRCA2 mutation analysis and MLPA)
Schneider Children's Medical Center of Israel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: MLPA based techniques

NORTE
PORTO
Diagnosis of Fanconi anemia (FANCA, FANCAB, SLX4, PALB2 genes)
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)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Québec
QUÉBEC
Cytogenetic diagnosis of chromosomal breakage syndromes
CHUQ - Hôpital Saint-Francois d'Assise
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Uniparental disomy study
Technique(s)
: Microsatellite analysis

NORTE
PORTO
Diagnosis of Fanconi anemia (BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, XRCCR2 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)
: NGS sequencing (except WES), Sanger sequencing

Alberta
CALGARY
Cytogenetic Diagnosis of Chromosomal Breakage/Instability Syndrome (chromosomal breakage analysis)
Alberta Children's Hospital
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Chromosomal instability
Technique(s)
: Chromosome breakage analysis

WIEN
WIEN
Molecular diagnosis of Fanconi anemia (BRCA2, BRIP1, PALB2, and RAD51C genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Zuid-Holland
ROTTERDAM
Diagnosis of DNA Repair Disorders
Erasmus MC - Erasmus Medisch Centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

NORTE
PORTO
Mental retardation, X-linked syndromic, Lubs type (gene MECP2)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: PCR based techniques, MLPA based techniques

Madrid
MADRID