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GERMANY

Bayern
MÜNCHEN

Diagnosis of FGFR3 gene-associated diseases
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

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

SWITZERLAND

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
Service(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size array based techniques, fish

GERMANY

Bayern
WÜRZBURG

Diagnosis of craniosynostosis (NGS screening panel, 26 genes)
Universität Würzburg - Biozentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

GERMANY

Baden-Württemberg
MANNHEIM

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

NETHERLANDS

Zuid-Holland
ROTTERDAM

Molecular diagnosis of Crouzon Syndrome with/without Acanthosis Nigricans (FGFR2 and FGFR3 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region sanger sequencing

BELGIUM

LIEGE
LIEGE

Diagnosis of Crouzon syndrome-acanthosis nigricans syndrome (FGFR3 gene; hot spot mutation exon 9)
CHU de Liège - UniLab Lg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis sanger sequencing

SWEDEN

Region Västra Götaland
GÖTEBORG

Diagnosis of FGFR/TWIST-related craniosynostoses (FGFR1, FGFR2, FGFR3 and TWIST1 genes)
Sahlgrenska Universitetssjuhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

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

GERMANY

Baden-Württemberg
TÜBINGEN

Diagnosis of FGFR3 gene-associated diseases
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

GERMANY

Niedersachsen
HANNOVER

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

SWITZERLAND

Suisse Alémanique
BERN

Diagnosis of FGFR3-related diseases
Universitätsspital Inselspital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region sanger sequencing

CANADA

Ontario
TORONTO

Molecular Diagnosis of Syndromic Craniosynostosis (FGFR2 and FGFR3 targeted mutation analysis)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis pcr based techniques

GERMANY

Baden-Württemberg
KARLSRUHE

Diagnosis of FGFR3 gene-associated diseases
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Diagnosis of genetic skeletal disorders (NGS Panel screening)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of FGFR3 gene-associated diseases
SYNLAB MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

GERMANY

Bayern
MARTINSRIED/PLANEGG

Diagnosis of FGFR3 gene-associated diseases
MVZ Martinsried GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Diagnosis of craniosynostosis (FGFR1 FGFR2, FGFR3, TWIST1 genes, hotspots; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

GERMANY

Nordrhein-Westfalen
DORTMUND

Diagnosis of FGFR3 gene-associated diseases
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Diagnosis of craniosynostosis related disorders (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

GERMANY

Berlin
BERLIN

Diagnosis of bone and skeletal diseases (NGS Screening Panel: 408 genes)
Labor Berlin - Charité Vivantes GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), whole exome sequencing (wes)

NETHERLANDS

Noord-Holland
AMSTERDAM

Diagnosis of Crouzon Syndrome (FGFR2 and FGFR3 gene)
Amsterdam UMC, locatie VUmc
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of craniosynostosis (Panel)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of bone diseases (Panel)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

ESTONIA

Tartu
TARTU

Molecular diagnosis of craniosynostosis (panel)
Asper Biogene
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

SWITZERLAND

Suisse Romande
GENÈVE

Diagnosis of Craniosynostosis (panel)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region sanger sequencing, whole exome sequencing (wes)

GERMANY

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
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

NETHERLANDS

Gelderland
NIJMEGEN

Molecular diagnosis of Vision Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

GERMANY

Bayern
MARTINSRIED/PLANEGG

Diagnosis of craniosynostosis (NGS screening panel, 37 genes)
MVZ Martinsried GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

NETHERLANDS

Noord-Holland
AMSTERDAM

Diagnosis of Crouzon Syndrome (FGFR2 and FGFR3 gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region sanger sequencing, mlpa based techniques

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Diagnosis of skeletal dysplasia (gene panel)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

FRANCE

NOUVELLE AQUITAINE
POITIERS

Diagnosis of developmental abnormalities (Whole exome)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

BELGIUM

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
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

FRANCE

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
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region sanger sequencing, whole exome sequencing (wes)

FRANCE

GRAND-EST
REIMS

Diagnosis of developmental abnormalities (Whole exome)
CHU de Reims - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

FRANCE

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
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Diagnosis of developmental defects during embryogenesis (Whole exome)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

SWITZERLAND

Suisse Alémanique
BASEL

Diagnosis of developmental disorders by Twist Comprehensive Exome Panel
Universitätsspital Basel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of FGFR gene-associated diseases (FGFR1, FGFR3 genes)
CENTOGENE GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Crouzon syndrome-acanthosis nigricans syndrome (FGFR3 gene)
Health in Code. Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis sanger sequencing

GERMANY

Baden-Württemberg
ULM

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

SPAIN

Madrid
MADRID

Diagnosis of Crouzon disease (FGFR2, FGFR3 genes)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques

SPAIN

Madrid
MADRID

Diagnosis of craniosynostosis syndrome or cranial ossification disease
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Deletion / Duplication analysis mlpa based techniques

GERMANY

Sachsen
DRESDEN

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

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of Crouzon syndrome-acanthosis nigricans syndrome (sequence analysis of the entire coding region of FGFR3 gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing, whole exome sequencing (wes)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Crouzon syndrome-acanthosis nigricans syndrome (FGFR3 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of syndromic craniosynostosis (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

HUNGARY

Közép-Magyarország
DEBRECEN

Molecular diagnosis of Crouzon syndrome (FGFR2 and FGFR3 genes)
University of Debrecen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons sanger sequencing

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
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques

ITALY

LOMBARDIA
PAVIA

Diagnosis of craniosynostosis [panel of genes]
Microgenomics S.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

SPAIN

Madrid
MADRID

Diagnosis of skeletal dysplasias (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region 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
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of craniosynostosis (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region 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
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis ngs sequencing (except wes)

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of craniosynostosis (ALX4, FGFR1, FGFR2, FGFR3, MSX2, TWIST1 genes)
Hospital Universitari Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of Crouzon syndrome-acanthosis nigricans syndrome (FGFR3 gene)
Hospital Universitari Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques

SPAIN

Extremadura
BADAJOZ

Diagnosis of rare genetic developmental defect during embryogenesis
Hospital Universitario de Badajoz
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), array based techniques, whole exome sequencing (wes)

GERMANY

Bayern
ERLANGEN

Diagnosis of unspecific developmental delay (NGS screening panel: 1666 genes)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

SPAIN

Aragón
ZARAGOZA

Diagnosis of syndromic craniosynostosis (FGFR2, FGFR3, TWIST1 genes)
Universidad de Zaragoza. Facultad de Medicina
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, pcr based techniques

GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of FGFR3 gene-associated diseases
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of craniosynostosis (FGFR1, FGFR2, FGFR3, TWIST genes)
IRCCS Azienda Ospedaliero Universitaria di Bologna, Policlinico di Sant'Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of craniosynostoses (CD96, FREM1, LRP5, FBN1, FGFR1, FGFR2, and FGFR3 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

CANADA

Alberta
CALGARY

Molecular Diagnosis of Craniosynostosis (FGFR1, FGFR2, FGFR3, TWIST)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons sanger sequencing

PORTUGAL

SUL
LISBOA

Diagnosis of Crouzon syndrome-acanthosis nigricans syndrome (FGFR3 gene)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing