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GERMANY

Berlin
BERLIN

Accreditation 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

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation 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

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation 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

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation 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

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GERMANY

Bayern
REGENSBURG

Accreditation 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

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GERMANY

Baden-Württemberg
MANNHEIM

Accreditation 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

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation 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

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GERMANY

Bayern
REGENSBURG

Accreditation 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

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

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GERMANY

Bayern
MARTINSRIED

Accreditation 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

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation 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

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation 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

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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

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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)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation 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

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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)

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FRANCE

GRAND-EST
STRASBOURG

Accreditation 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)

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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

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation 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)

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GERMANY

Bayern
MÜNCHEN

Accreditation 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

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation 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)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation 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)

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UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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

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UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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

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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)

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation 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)

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SPAIN

Andalucía
MÁLAGA

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

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GERMANY

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

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SPAIN

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

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GERMANY

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

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SPAIN

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

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SPAIN

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)

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GERMANY

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

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POLAND

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

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PORTUGAL

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

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GERMANY

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

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FRANCE

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)

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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)

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SPAIN

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)

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FRANCE

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)

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AUSTRIA

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

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AUSTRIA

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

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SPAIN

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

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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

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ITALY

TOSCANA
FIRENZE

Postnatal molecular diagnosis of autosomal recessive primary microcephaly (sequence analysis of the entire coding region and MLPA of ASPM gene)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : MLPA based techniques

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