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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Molecular cytogenetics diagnosis of Greig syndrome (FISH analysis of GLI3 gene)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular cytogenetic diagnosis of Greig syndrome
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Greig Cephalopolysyndactyly (GLI3 gene morphopathies: mutation screening by sequencing and dosage by MLPA)
The Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : MLPA based techniques

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Greig syndrome (GLI3 gene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of Greig syndrome (GLI3 gene)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Greig Syndrome (GLI3 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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of Greig syndrome (GLI3 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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Molecular diagnosis of Greig cephalopolysyndactyly syndrome (GLI3 gene)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of Greig syndrome (GLI3 gene)
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

GERMANY

Bayern
REGENSBURG

Accreditation
Molecular diagnosis of GLI3-gene associated syndromes (sequencing/ MLPA)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of craniosynostosis (FGFR1, FGFR2, FGFR3, MSX2, TWIST1, TCF12 genes)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of GLI3-gene associated syndromes (sequencing/ MLPA)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of Greig cephalopolysyndactyly syndrome (GLI3 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of ciliopathy (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
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

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of limb malformations (Panel : 107 genes)
CHRU de Lille - Centre de Biologie Pathologie Génétique
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, PCR based techniques, MLPA based techniques

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of Greig syndrome (GLI3 gene)
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

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of limb malformations (Panel : 42 genes)
CHRU de Lille - Centre de Biologie Pathologie Génétique
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, PCR based techniques, MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular cytogenetic diagnosis of Greig syndrome (by FISH of GLI3)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

ITALY

LAZIO
ROMA

Molecular cytogenetic diagnosis of Greig syndrome
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LIGURIA
GENOVA

Molecular and molecular cytogenetic diagnosis of Greig syndrome (GLI3 gene)
Ospedali Galliera
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Cytogenetic diagnosis of Greig syndrome
Cambridge University Hospitals NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

FRANCE

OCCITANIE
MONTPELLIER

Cytogenetics pre-natal and post-natal diagnosis of Greig syndrome (by FISH)
CHRU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SPAIN

País Vasco
DERIO

Molecular diagnosis of Greig cephalopolysyndactyly syndrome (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of Greig cephalopolysyndactyly syndrome (GLI3 gene / array-CGH)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Greig cephalopolysyndactyly syndrome (GLI3 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of syndromic craniosynostosis (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Greig cephalopolysyndactyly syndrome (GLI3 gene)
DNA Data
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

ITALY

CAMPANIA
NAPOLI

Molecular cytogenetics diagnosis of Greig syndrome
Azienda Ospedaliera Universitaria "Federico II"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Greig cephalopolysyndactyly syndrome (GLI3 gene)
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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques