x

Search for a diagnostic test

* (*) mandatory field

42 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation ;

FRANCE

ILE-DE-FRANCE
PARIS

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

More information
GERMANY

Bayern
REGENSBURG

Accreditation Molecular diagnosis of holoprosencephaly (NGS panel holoprosencephaly, 7 genes)
Universitätsklinikum Regensburg
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

More information
SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation 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

More information
SWITZERLAND

Suisse Alémanique
SCHLIEREN

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

More information
NETHERLANDS

Limburg
MAASTRICHT

Accreditation Molecular diagnosis of Holoprosencephaly (SIX3, ZIC2, TGIF, SHH, GLI2, DISP1 and PTCH1 gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Molecular cytogenetics diagnosis of holoprosencephaly : search for microdeletions in HPE1 and HPE6 locus and in SIX3, SHH, TGIF, ZIC2 and PTCH1 genes
GH de l'Institut Catholique de Lille - Hopital Saint Vincent de Paul
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications

More information
GERMANY

Sachsen
DRESDEN

Accreditation Molecular diagnosis of holoprosencephaly (GLI2, SHH, SIX3, TGIF and ZIC2 genes)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Baden-Württemberg
FREIBURG

Accreditation Molecular diagnosis of Holoprosencephaly 7 (PTCH1ágene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Baden-Württemberg
MANNHEIM

Accreditation Molecular diagnosis of Holoprosencephaly 3 and 7 (SHH, PTCH1 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

More information
NETHERLANDS

Gelderland
NIJMEGEN

Accreditation 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

More information
NETHERLANDS

Gelderland
NIJMEGEN

Accreditation 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

More information
GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of holoprosencephaly (GLI2, PTCH1, SHH, SIX3, TGIF, ZIC2 genes)
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

More information
GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of Brain Malformations / Neuronal Migration Disorders (NGS screening panel, 269 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), Sanger sequencing

More information
GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of syndromes with corpus callosum agenesis/dysgenesis (NGS panel, 45 genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of holoprosencephaly (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of corpus callosum agenesis or dysgenesis syndrome (Panel)
CHU Paris - 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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of congenital hypogonadotropic hypogonadism (Panel)
CHU Paris - Hôpital Robert Debré
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, PCR based techniques, MLPA based techniques

More information
FRANCE

BRETAGNE
RENNES

Accreditation Diagnosis of holoprosencephaly (Panel)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation Molecular Cytogenetic diagnosis of Holoprosencephaly (by FISH of SIX3)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

More information
GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Molecular diagnosis of holoprosencephaly (CDON, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation Molecular Diagnosis of Disorders of Cerebral Malformation (ARX, DCX, GPR56, NDE1, PAFAH1B1, TUBA1A, TUBA8, TUBB2B gene panel: Sequencing of the entire coding region of gene (s) plus copy number analysis / targeted mutation analysis: ARX gene exon 2
St James's University Hospital
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)

More information
GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of holoprosencephaly (PTCH1, SHH, SIX3, TGIF1, ZIC2 genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

Madrid
MADRID

Diagnosis of holoprosencephaly
Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, Array based techniques

More information
SPAIN

País Vasco
DERIO

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

More information
GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of Holoprosencephaly 7 (PTCH1 gene: sequencing / MLPA)
Praxis für Humangenetik und Prävention
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

More information
SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of holoprosencephaly (SHH, PTCH1, SIX3, TDGF1, TGIF1, ZIC2, CDON, DISP1, DLL1, FGF8, FOXH1, GAS1, GLI2, NODAL genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
GERMANY

Sachsen
DRESDEN

Molecular diagnosis of Holoprosencephaly 7 (PTCH1 gene: sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
FRANCE

BRETAGNE
BREST

Molecular diagnosis of dysmorphological syndromes by CGH array
CHRU de Brest - Hôpital Morvan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

More information
AUSTRIA

WIEN
WIEN

Molecular diagnosis of Holoprosencephaly (PTCH1, SHH, and SIX3 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of holoprosencephaly (SIX3 gene / array-CGH)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

More information
SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of holoprosencephaly (SHH gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
SPAIN

Castilla - León
SALAMANCA

Diagnosis of holoprosencephaly (GLI2 gene)
Universidad de Salamanca. Facultad de Medicina
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
PORTUGAL

NORTE
PORTO

Molecular diagnosis of Holoprosencephaly (PTCH, SHH, ZIC2, SIX3, TGIF genes: deletion/duplication analysis by MLPA for all genes and sequencing of the entire coding region for SHH and SIX3 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) : MLPA based techniques

More information
HUNGARY

Közép-Magyarország
BUDAPEST

Mutation screening in combined pituitary hormone deficiency
2nd Department of Internal Medicine, Semmelweis University
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

More information
SPAIN

Comunidad Valenciana
ELCHE

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

More information
AUSTRIA

WIEN
WIEN

Molecular diagnosis of Holoprosencephaly (SHH and SIX3 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
NORWAY

Østlandet
OSLO

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

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of holoprosencephaly (SHH, ZIC2, SIX3, TGIF1, FOXH1 genes)
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

More information
GERMANY

Nordrhein-Westfalen
BONN

Molecular diagnosis of holoprosencephaly 3 (SHH gene)
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

More information
ITALY

LIGURIA
GENOVA

Molecular diagnosis of holoprosencephaly (SHH gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
SPAIN

Cataluña
BARCELONA

Diagnosis of nonacquired combined pituitary hormone deficiency
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

More information
GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Array-CGH in case of unexplained developmental delay
Praenatal-Medizin und Genetik, Düsseldorf
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

More information