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GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of thanatophoric dwarfism (FGFR3 gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
NEU-ULM

Accreditation
Diagnosis of thanatophoric dwarfism (FGFR3 gene)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of FGFR3-related chondrodysplasia (FGFR3 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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of FGFR3 gene-associated diseases
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

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Diagnosis of FGFR3 gene-associated diseases
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Diagnosis of Thanatophoric dysplasia type 1 (FGFR3 gene)
Center for Medical Genetics Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular diagnosis of Thanatophoric dysplasia (FGFR3 gene)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FINLAND

Finland
TURKU

Accreditation
Molecular diagnosis of thanatophoric dysplasia (FGFR3 gene)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
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

GERMANY

Sachsen
DRESDEN

Accreditation
Diagnosis of thanatophoric dwarfism (FGFR3 gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Thanatophoric Dysplasia (FGFR3 gene)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of FGFR associated syndromes (FGFR2 and FGFR3 genes)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of thanatophoric dysplasia types 1 & 2 (FGFR3 gene)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular diagnosis of Thanatophoric dysplasia with or without cloverleaf skull (FGFR3 gene)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of thanatophoric dwarfism (FGFR3 gene: partial sequencing)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Limburg
MAASTRICHT

Accreditation
Molecular diagnosis of Achondroplasia, Hypochondroplasia and Thanatophoric dysplasia (FGFR3 gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Achondroplasia, Hypochondroplasia and Thanatophoric Dysplasia (FGFR3 gene)
Amsterdam UMC, locatie VUmc
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) : Sanger sequencing

GERMANY

Bayern
WÜRZBURG

Accreditation
Diagnosis of FGFR3-associated skeletal dysplasias (FGFR3-Gen)
Universität Würzburg - Biozentrum
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

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Achondroplasia, Hypochondroplasia and Thanatophoric Dysplasia (FGFR3 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Achondroplasia, Hypochondroplasia and Thanatophoric dysplasia (FGFR3 gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation
Diagnosis of thanatophoric dwarfism (study of FGFR3 gene)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
TOULOUSE

Accreditation
Diagnosis of thanatophoric dwarfism (FGFR3 gene)
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

GERMANY

Hessen
FRANKFURT AM MAIN

Accreditation
Diagnosis of craniosynostosis syndromes (FGFR1, FGFR2 and FGFR3 genes)
bio.logis Zentrum für Humangenetik
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 FGFR-associated skeletal dysplasias / craniosynostosis syndromes (FGFR1, FGFR2 and FGFR3 genes)
Pränatalmedizin München
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

Niedersachsen
HANNOVER

Accreditation
Diagnosis of FGFR3 gene-associated diseases
amedes genetics im MVZ wagnerstibbe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of FGFR3 gene-associated diseases (hotspot mutations; entire coding region; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SWITZERLAND

Suisse Alémanique
BERN

Accreditation
Diagnosis of FGFR3-related diseases
University Hospital Inselspital
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
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of FGFR3 gene-associated diseases
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Thanatophoric Dysplasia (by FGFR3 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) : Sanger sequencing

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Diagnosis of FGFR3 gene-associated diseases
Labor PD Dr. Volkmann und Kollegen
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 FGFR3 gene-associated diseases
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
MARTINSRIED

Accreditation
Diagnosis of FGFR3 gene-associated diseases
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

UNITED KINGDOM

Greater London
LONDON

Accreditation
Non-Invasive Prenatal diagnosis (NIPD) for skeletal dysplasia: Achondroplasia & Thanatophoric Dysplasia (FGFR3 gene)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of FGFR3 gene-associated diseases
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Connective Tissue Disorder with Bone Involvement NGS Panel and Del/Dup Analysis (43 genes)
The Hospital for Sick Children and University of Toronto
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), Array based techniques

FRANCE

ILE-DE-FRANCE
LE CHESNAY

Accreditation
Diagnosis of bone diseases (Panel)
CH de Versailles - Hôpital André Mignot
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)

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of bone diseases (Panel)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Diagnosis of craniosynostosis syndromes (FGFR1, FGFR2 and FGFR3 genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of retarted growth (Panel)
Hôpital Necker-Enfants Malades
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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of primary bone dysplasia (gene panel)
Reference Laboratory Genetics
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

GERMANY

Bayern
MÜNCHEN

Accreditation
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)

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of skeletal dysplasia (panel)
Asper Biogene
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of rare developmental defect during embryogenesis
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Molecular diagnosis of achondroplasia and FGFR3 anomaly (FGFR3 gene)
Sahlgrenska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Diagnosis of FGFR3 gene-associated diseases (sequencing)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of FGFR3 gene-associated diseases
CeGaT GmbH
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

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Thanatophoric Dysplasia (FGFR3 gene: Sequencing of selected exons / Testing for known mutations in family members
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons

ITALY

LIGURIA
GENOVA

Molecular diagnosis of thanatophoric dwarfism, type 1 and 2 (FGFR3 gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of thanatophoric dysplasia (FGFR3 gene)
Azienda Ospedaliera "San Paolo" - Università degli Studi di Milano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
PISA

Diagnosis of thanatophoric dwarfism (FGFR3 gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

DENMARK

Jylland
AARHUS

Molecular diagnosis of thanatophoric dysplasia
Aarhus Universitetshospital - Skejby
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
MÜNSTER

Diagnosis of FGFR associated syndromes (FGFR1, FGFR2 and FGFR3 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

ITALY

LOMBARDIA
MONZA

Molecular diagnosis of thanatophoric dwarfism, type 1 and 2 (FGFR3 gene)
Azienda Ospedaliera San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of achondroplasia and FGFR3 anomaly
Genetiks - Genetic diagnosis and research center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
ERLANGEN

Diagnosis of thanatophoric dwarfism (FGFR3 gene)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Diagnosis of achondroplasia, hypochondroplasia and thanatophoric dwarfism (FGFR3 gene)
Gemeinschaftspraxis für Humangenetik GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
NÜRNBERG

Diagnosis of FGFR associated syndromes (FGFR2 and FGFR3 genes)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Andalucía
MÁLAGA

Diagnosis of thanatophoric dysplasia (FGFR3 gene)
IMEGEN - Delegación Málaga
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), Sanger sequencing

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of thanatophoric dwarfism (FGFR3 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)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of achondroplasia (FGFR3 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, 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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of thanatophoric dysplasia (FGFR3 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, 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

SPAIN

Castilla - León
SALAMANCA

Diagnosis of thanatophoric dwarfism (FGFR3 gene)
Innovagenomics, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of thanatophoric dwarfism types I and II (FGFR3 gene)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of thanatophoric dysplasia types I and II (FGFR3 gene)
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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GREECE

ATTIKI
ATHENS

Molecular diagnosis and PGD of achondroplasia and FGFR3-related diseases (FGFR3 gene: Targeted mutation analysis)
Leto Maternity Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

ITALY

LAZIO
ROMA

Molecular diagnosis of thanatophoric dysplasia (FGFR3 gene)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

GREECE
THESSALONIKI

Molecular diagnosis of achondroplasia (FGFR3 gene)
Eurogenetica SA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of thanatophoric dysplasia (FGFR3 gene / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Diagnosis of FGFR3 gene-associated diseases
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CANADA

Alberta
CALGARY

Molecular Diagnosis of FGFR3-Related Skeletal Dysplasia (FGFR3)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of Thanatophoric Dysplasia (FGFR3 targeted mutation analysis)
BC Women's Hospital and Health Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of FGFR3 gene-associated diseases
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

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of thanatophoric dysplasia (FGFR3 gene)
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Lariboisière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of skeletal dysplasias (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)

SPAIN

La Rioja
LOGROÑO

Diagnosis of bone dysplasia (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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of Rett syndrome and epilepsy (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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of craniosynostosis (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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of bone dysplasia (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)

ITALY

LOMBARDIA
PAVIA

Diagnosis of disproportionate/syndromic short stature and skeletal dysplasia [panel of genes]
Microgenomics S.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of skeletal dysplasias (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of overgrowth 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)

SPAIN

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)

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of short stature (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)

GREECE

ATTIKI
ATHENS

Molecular diagnosis of achondroplasia and other FGFR3-related diseases (FGFR3 gene: mutation screening)
Mitera General, Maternity and Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of thanatophoric dwarfism (FGFR3 gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NORWAY

Østlandet
OSLO

Molecular diagnosis of thanatophoric dwarfism (FGFR3 gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Capital City Prague
PRAHA

Prenatal and postnatal molecular diagnosis of thanatophoric dwarfism (FGFR3 gene)
Motol university hospital - 2nd Medical School Charles University Prague
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of FGFR gene-associated diseases (FGFR1, FGFR3 genes: sequencing / MLPA)
Centogene AG
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

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Thanatophoric dysplasia type 1 and 2 (FGFR3 gene: Sequencing of the entire coding region or only select exons (7, 10, 15 and 19))
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SLOVENIA

SLOVENIA
MARIBOR

Molecular diagnosis of achondroplasia and FGFR3 anomaly
Maribor general hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Kraków
KRAKOW

Molecular diagnosis of achondroplasia and FGFR3 anomaly
Uniwersytecki Szpital Dzieciecy w Krakowie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Molecular diagnosis of FGFR2 and FGFR3-related diseases
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of FGFR3 gene-associated diseases
Institut für Klinische Genetik Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
ULM

Diagnosis of FGFR3 gene-associated diseases
MVZ Humangenetik Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of FGFR3-related chondrodysplasia (FGFR3 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

SUL
LISBOA

Diagnosis of thanatophoric dysplasia (FGFR3 gene)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing