Search for a diagnostic test
46 Result(s)
Caption
: Accreditation
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Berlin
BERLIN
Molecular diagnosis of premature chromosome condensation with microcephaly (MCPH1 gene)
Charité - Universitätsmedizin Berlin (CVK)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Molecular diagnosis of Microcephaly (MCPH5) (ASPM gene)
Erasme Hospital - ULB
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Nordrhein-Westfalen
DORTMUND
Molecular diagnosis of isolated microcephaly type 5 (ASPM gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Gelderland
NIJMEGEN
Molecular diagnosis of Autosomal Recessive Primary Microcephaly type 1-7 (MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ and STIL 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

Noord-Holland
AMSTERDAM
Molecular diagnosis of Autosomal Recessive Primary Microcephaly type 1, 2, 5, 6 and 7 (MCPH1, WDR62, ASPM, CENPJ and STIL gene)
AMC - Academisch Medisch Centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
REGENSBURG
Molecular diagnosis of isolated microcephaly (ASPM, CENPJ, CEP152, CDK5RAP2, MCPH1, STIL, WDR62 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

Baden-Württemberg
MANNHEIM
Molecular diagnosis of isolated microcephaly (ASPM, CASC5, CDK5RAP2, CENPJ, CEP152, MCPH1, STIL, WDR62 genes: sequencing, MLPA)
Zentrum für Humangenetik Mannheim
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

Baden-Württemberg
FREIBURG
Molecular diagnosis of autosomal recessive primary microcephaly type 1, 2, 3, 5, 6, 7 (ASPM, CDK5RAP2, CENPJ, MCPH1, STIL, WDR62 genes)
Praxis für Humangenetik Freiburg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
REGENSBURG
Molecular diagnosis of autosomal recessive primary microcephaly 1-7 (ASPM, WDR62, MCPH1 genes: sequencing, loci: MCPH1, MCPH2, MCPH3, MCPH4, MCPH5, MCPH6, MCPH7 linkage analysis)
Universitätsklinikum Regensburg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Molecular diagnosis of autosomal recessive primary microcephaly 2 (WDR62 gene)
Erasme Hospital - ULB
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
MARTINSRIED
Molecular diagnosis of autosomal recessive primary microcephaly (NGS screening panel, 17 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
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

West Midlands
BIRMINGHAM
Molecular diagnosis of Primary Autosomal RecessiveMicrocephaly type 5 (ASPM gene)
Birmingham Women's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Rheinland-Pfalz
INGELHEIM AM RHEIN
Molecular diagnosis of autosomal recessive isolated microcephaly type 1-6 and 9 (ASPM, CASC5, CDK5RAP2, CENPJ, CEP152, MCPH1, WDR62 genes)
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

Bayern
MÜNCHEN
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

Bayern
MÜNCHEN
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)

Cataluña
L'HOSPITALET DE LLOBREGAT
Molecular diagnosis of autosomal recessive primary microcephaly (MCPH1, WDR62, ASPM genes / sequence analysis entire coding region)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

GRAND-EST
STRASBOURG
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)

GRAND-EST
STRASBOURG
Diagnosis of cerebral malformations (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)

ILE-DE-FRANCE
PARIS
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

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of Seckel syndrome and Seckel related diseases (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)

Bayern
MÜNCHEN
Molecular diagnosis of autosomal recessive primary microcephaly (ASPM, CDK5RAP2, CENPJ, CEP152, MCPH1, STIL, WDR62 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

HAUTS-DE-FRANCE
LILLE
Diagnosis of intellectual disabilities (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
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)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of microcephalic primordial dwarfism (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)

Cambridgeshire
CAMBRIDGE
Molecular diagnosis of Isolated Congenital Microcephaly (ASPM (MCPH5): sequencing and dosage analysis)
Addenbrooke's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cambridgeshire
CAMBRIDGE
Molecular diagnosis of Primary autosomal recessive microcephaly type 2 - MCPH2 (WDR62 gene)
Addenbrooke's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

West Yorkshire
LEEDS
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)

Baden-Württemberg
TÜBINGEN
Molecular diagnosis of microcephaly and pontocerebellar hypoplasia (ASPM, ATR, CASK, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, CHMP1A, DYNC1H1, DYRK1A, EXOSC3, KIF2A, KIF5C, KNL1, MBD5, MCPH1, MED17, NIN, PCNT, PNKP, PQBP1, RARS2, RBBP8, SEPSECS, SLC25A19, STAMBP, STIL, TSEN2, TSEN34, TSEN54, TUBG1, VRK1, WDR62, ZNF335 genes: Brain Development Disorders Panel)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Andalucía
MÁLAGA
Molecular diagnosis of primary autosomal recessive microcephaly (ASPM gene).
Genetaq
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Baden-Württemberg
FREIBURG
Molecular diagnosis of isolated microcephaly type 1-8 (ASPM, CDK5RAP2, CDK6, CENPJ, CEP135, CEP152, MCPH1, PHC1, STIL, WDR62 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)
: NGS sequencing (except WES), Sanger sequencing

Andalucía
ARMILLA
Molecular diagnosis of primary autosomal recessive microcephaly (entire coding sequence of MCPH1 gene)
Lorgen G.P.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

Niedersachsen
OSNABRÜCK
Molecular diagnosis of isolated microcephaly type 1-10 (ASPM, CASC5, CDK5RAP2, CEP135, CEP152, CENPJ, MCPH1, STIL, WDR62, ZNF335 genes)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
PATERNA
Molecular diagnosis of primary autosomal recessive microcephaly (MCPH1 and ASPM genes)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Comunidad Valenciana
PATERNA
Molecular diagnosis of autosomal recessive primary microcephaly (ASPM, MCPH1 gene / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

Bayern
ERLANGEN
Molecular diagnosis of isolated microcephaly type 1, 5 (ASPM, MCPH1 genes)
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

Bydgoszcz
BYDGOSZCZ
Molecular diagnosis of myeloproliferative syndromes (V617F mutation in JAK2 gene)
Szpital Uniwersytecki im. dr. Antoniego Jurasza
Purpose(s)
: Somatic genetics
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Molecular diagnosis of autosomal recessive primary microcephaly type 1, 2 and 5 (MCPH1, WDR62 and ASPM genes: sequencing of entire coding region and prenatal testing)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Antenatal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

Nordrhein-Westfalen
KÖLN
Molecular diagnosis of isolated microcephaly type 1-10 (ASPM, CASC5, CDK5RAP2, CEP63, CEP135, CEP152, CENPJ, MCPH1, STIL, WDR62, ZNF335 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

ILE-DE-FRANCE
PARIS
Diagnosis of syndromes with microcephaly (Panel)
CHU Paris - Hôpital Robert Debré
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)

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)

Comunidad Valenciana
ELCHE
Diagnosis of autosomal recessive primary microcephaly (ASPM, MCPH1 genes)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

BRETAGNE
BREST
Diagnosis of intellectual disability (Panel)
CHRU de Brest - Hôpital Morvan
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)

WIEN
WIEN
Molecular diagnosis of microcephaly (CENPJ, MCPH1, and WDR62 genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of microcephaly (ASPM, CEP152, SLC25A19, and WDR62 genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of primary autosomal recessive microcephaly
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

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

TOSCANA
FIRENZE