Orphanet: Simple search
x

Search for a diagnostic test

* (*) mandatory field

56 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation ;

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

More information
NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Molecular diagnosis of Bilateral Frontoparietal Polymicrogyria (GPR56, TUBA1A and WDR62 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Bayern
REGENSBURG

Accreditation Diagnosis of bilateral frontoparietal polymicrogyria (GPR56 gene)
Universitätsklinikum Regensburg
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
UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation Molecular diagnosis of Bilateral Frontoparieral Polymicrogyria (GPR56 gene: Molecular diagnosis through sequencing analysis)
University Hospital of Wales
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 of Intellectual Disability (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

More information
BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Molecular Diagnosis of Bilateral perisylvic polymicrogyria (SRPX2 gene)
Universitair Ziekenhuis Brussel - UZ Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Molecular Diagnosis of Polymicrogyria (bilateral frontoparietal) (GPR56 gene)
Universitair Ziekenhuis Brussel - UZ Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Bayern
MARTINSRIED

Accreditation Diagnosis of epilepsy (NGS screening panel: 116 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
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
GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of polymicrogyria (ADGRG1, TUBA8, TUBB2B genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of bilateral generalized polymicrogyria (RTTN 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

More information
GERMANY

Bayern
MÜNCHEN

Accreditation 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
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of bilateral frontoparietal polymicrogyria (ADGRG1 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
FRANCE

GRAND-EST
STRASBOURG

Accreditation Diagnosis of intellectual disability (Panel)
CHU de Strasbourg - Hôpital Civil
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)

More information
FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of cerebral malformations (Panel)
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)

More information
FRANCE

ILE-DE-FRANCE
PARIS

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

More information
FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation Diagnosis of epilepsy (Panel)
CHU de Marseille - Hôpital de la Timone
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)

More information
FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation Diagnosis of intellectual disability (Panel)
CHU de Marseille - Hôpital de la Timone
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)

More information
GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation Diagnosis of neurogenetic and neuromuscular diseases (NGS panel, 291 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Epilepsy (gene panel; EPI00v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
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 polymicrogyria (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)

More information
NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Epileptic Syndrome with Intellectual Disability (gene panel; EPI09v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Diagnosis of Epilepsy (gene panel)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
FRANCE

CENTRE-VAL DE LOIRE
TOURS

Accreditation Diagnosis of intellectual disability (Panel ID286)
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of epilepsy (NGS screening panel, 444 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), Sanger sequencing

More information
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)

More information
SPAIN

Madrid
MAJADAHONDA

Accreditation Diagnosis of rare genetic intellectual disability
Instituto de Salud Carlos III. Campus de Majadahonda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

More information
FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation Diagnosis of intellectual disability (Medical exome)
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

More information
GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of rare genetic epilepsy (Whole exome sequencing)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

More information
GERMANY

Bayern
NEU-ULM

Accreditation Diagnosis of epilepsies (NGS screening panel: 217 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)

More information
GERMANY

Bayern
WÜRZBURG

Accreditation Diagnosis of autosomal dominant intellectual disability (NGS screening panel, 8 genes)
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)

More information
FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of intellectual disability and autism spectrum disorder (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of Bilateral Perisylvian Polymicrogyria (GPR56 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of intellectual disability and cerebellar malformation
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

More information
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)

More information
FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation Diagnosis of intellectual disability (Clinical exome)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (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

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of neuronal migration disorders (NGS screening panel: 72 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)

More information
GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of epilepsy and developmental disorder (incl. epileptic encephalopathy) (NGS screening panel: 97 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)

More information
SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of bilateral frontoparietal polymicrogyria (ADGRG1 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) : NGS sequencing (except WES), Sanger sequencing

More information
SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of bilateral frontoparietal polymicrogyria (GPR56 gene)
IMEGEN - Delegación Valencia
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
ITALY

LAZIO
ROMA

Molecular diagnosis of bilateral frontoparietal polymicrogyria (GPR56 gene)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

More information
AUSTRIA

WIEN
WIEN

Diagnosis of bilateral frontoparietal and perisylvian polymicrogyria (ADGRG1 gene)
Medizinische Universität Wien
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
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of bilateral frontoparietal polymicrogyria (ADGRG1 gene)
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
FRANCE

NOUVELLE AQUITAINE
POITIERS

Diagnosis of intellectual disability (Panel ID275)
CHU de Poitiers
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)

More information
GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of polymicrogyria (ADGRG1, TUBA8, TUBB2B genes)
Institut für Humangenetik am Universitätsklinikum Freiburg
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

More information
SPAIN

Madrid
MADRID

Diagnosis of epilepsy (panel)
NIMGenetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
AUSTRIA

WIEN
WIEN

Molecular diagnosis of bilateral parasagittal parieto-occipital polymicrogyria (FIG4 gene)
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
AUSTRIA

WIEN
WIEN

Molecular diagnosis of bilateral frontoparietal and perisylvian polymicrogyria (ADGRG1 gene)
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
SPAIN

Madrid
MADRID

Diagnosis of cerebral malformation with epilepsy (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)

More information
SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of idiopathic intellectual disability, autism, growth delay, and / or multiple congenital anomalies (qChip® Post)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

More information
SPAIN

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)

More information
SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of 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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

More information
SPAIN

Madrid
TRES CANTOS

Diagnosis of epilepsy (panel - 515 genes)
Centro de estudios genéticos ATG Medical
Purpose(s) : 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)

More information
ITALY

TOSCANA
FIRENZE

Postnatal molecular diagnosis of frontoparietal polymicrogyria (sequence analysis of the entire coding regions of GPR56 and SRPX2 genes)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of bilateral frontoparietal polymicrogyria (ADGRG1 gene)
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) : Sanger sequencing

More information
SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of bilateral perisylvian polymicrogyria (SRPX2 gene)
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) : Sanger sequencing

More information