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SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular and molecular cytogenetics diagnosis of Angelman syndrome (karyotyping; FISH; methylation sensitive MLPA; microarray; entire coding region UBE3A gene/ MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Detection of chromosome alterations large in size
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques, FISH, Karyotyping

GERMANY

Sachsen
DRESDEN

Accreditation
Diagnosis of L1 syndrome (L1CAM gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of familial spastic paraplegia (ATL1, BSCL2, CYP7B1, FA2H, HSPD1, KIF5A, L1CAM, NIPA1, PLP1, PNPLA6, REEP1, SACS, SPART, SPAST, SPG11, SPG21, SPG7, WASHC5, ZFYVE26 genes)
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

NETHERLANDS

Groningen
GRONINGEN

Accreditation
Molecular diagnosis of X-linked Hydrocephalus (L1CAM gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Diagnosis of spastic paraplegia (genes: ACP33, BSCL2, CYP7B1, HSPD1, KIAA0196, KIF5A, L1CAM, NIPA1, REEP1, SPAST, SPG3a, SPG7, SPG11(KIAA1840), SPG20, PLP1, ZFYVE26)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Molecular diagnosis of Hydrocephalus, X-linked (L1CAM 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

NETHERLANDS

Groningen
GRONINGEN

Accreditation
Molecular diagnosis of L1 Syndrome (L1CAM gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of L1 syndrome (L1CAM 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

GERMANY

Niedersachsen
HANNOVER

Accreditation
Diagnosis of L1 syndrome (L1CAM gene)
amedes genetics im MVZ wagnerstibbe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of L1 syndrome (L1CAM gene: 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

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of hydrocephalus with stenosis of aqueduct of Sylvius (L1CAM gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of epileptic encephalopathy (entire coding region SCN1A gene / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Coffin-Lowry syndrome (entire coding region RPS6KA3 gene / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Cohen syndrome (entire coding region VPS13B gene / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Kleefstra syndrome (entire coding region EHMT1 gene / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Mowat-Wilson syndrome (entire coding region ZEB2 gene / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Pitt-Hopkins syndrome and Pitt-Hopkins like syndrome (TCF4, CNTNAP2,NRXN1 genes entire coding region / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Rett syndrome and atypical Rett syndrome (entire coding region CDKL5, FOXG1, MECP2 and MEF2C genes / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

AUSTRIA

STEIERMARK
GRAZ

Accreditation
Diagnosis of spastic paraplegia (AP4B1, AP4E1, AP4S1, AP5Z1, AP4M1, ATL1, BSCL2, C12ORF65, CYP7B1, ERLIN2, FA2H, GJC2, HSPD1, KIF1A, KIF5A, L1CAM, NIPA1, PLP1, SPAST, and WASHC5 genes)
Medizinische Universität Graz
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, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of spastic paraplegia (ACP33, BSCL2, CYP7B1, HSPD1, KIAA0196, KIF5A, L1CAM, NIPA1, REEP1, SLC33A1, SPAST, SPG3a, SPG7, SPG11, SPG20, PLP1, ZFYVE26 genes)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of L1 syndrome (L1CAM gene)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of L1 syndrome (L1CAM gene)
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

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

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of L1 syndrome (L1CAM gene)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of hydrocephalus, congenital (entire coding regions CCDC88C and L1CAM genes)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular and molecular cytogenetics diagnosis of Rubinstein-Taybi syndrome (FISH ; entire coding region CREBBP and EP300 genes / MLPA; gene panel SCN1A, MECP2, MEF2C, TCF4, UBE3A, CDKL5, ARX, ZEB2, EHMT1, CREBBP, EP300, CHD7, RPS6KA3, ANKRD11, VPS13B, L1CAM, CCDC88C; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques, FISH

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of L1 syndrome (L1CAM 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

GERMANY

Bayern
MÜNCHEN

Accreditation
Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)
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

GERMANY

Bayern
MÜNCHEN

Accreditation
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)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of hydrocephalus (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)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of Hirschprung disease (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)

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of X-linked Hereditary Spastic Paraplegia NGS Panel (3 genes)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

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)

FRANCE

NORMANDIE
ROUEN

Accreditation
Diagnosis of congenital hydrocephalus (Panel)
CHU de Rouen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Risk assessment
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, MLPA based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of ataxia, spastic paraplegia and related neurodegenerative diseases (Panel)
IURC - Institut Universitaire de Recherche Clinique
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

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

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of hereditary spastic paraplegia (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
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), Sanger sequencing, MLPA based techniques

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)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of hereditary spastic paraplegia (Panel)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of familial spastic paraplegia (NGS screening panel, 86 genes)
Pränatalmedizin München
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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of MASA syndrome (L1CAM gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of hereditary spastic paraplegia (NGS screening panel, 55 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)

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)

FRANCE

BRETAGNE
BREST

Accreditation
Diagnosis of intellectual disability (Panel)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
MARTINSRIED

Accreditation
Diagnosis of autism spectrum disorders (NGS panel, 49 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, MLPA based techniques

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of hereditary spastic paraplegia (panel)
Asper Biogene
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of X-linked intellectual disability (NGS panel, 115 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of X-linked Spastic Paraplegia (gene panel; NEM18v16.1)
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)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of autism spectrum disorders (100 genes 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)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of hereditary spastic paraplegia (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)

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)

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of Hydrocephalus with stenosis of the aqueduct of Sylvius (L1CAM gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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)

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of macrocephaly (NGS screening panel, 53 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)

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of L1 syndrome (L1CAM gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of spastic paraplegia (genes: ATL1, ACP33, BSCL2, CYP7B1, C12ORF65, FA2H, HSPD1, KIAA0196, KIF5A, L1CAM, NIPA1, PLP1, PNPLA6, REEP1, SLC33A1, SPAST, SPG3A, SPG7, SPG11, SPG20, SPG21, ZFYVE26 and ZFYVE27)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of L1 syndrome (L1CAM gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of hydrocephalus due to stenosis of aqueduct of Sylvius (L1CAM gene: sequencing and MLPA)
IMEGEN - Delegación Málaga
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of L1 syndrome (L1CAM gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Andalucía
SEVILLA

Diagnosis of hydrocephalus due to stenosis of aqueduct of Sylvius (L1CAM gene)
Hospital Universitario Virgen del Rocío
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of L1 syndrome (L1CAM 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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of CRASH syndrome (L1CAM gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Spastic Paraplegia (ATL1, BSCL2, FARS2, GJC2, L1CAM, PLP1, SLC16A2, SPART, SPAST, SPG7, SPG11, REEP1, VCP, and C19ORF12 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of L1 syndrome (L1CAM gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Prenatal and postnatal molecular diagnosis of L1 syndrome (L1CAM gene: sequencing of entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

PORTUGAL

NORTE
PORTO

Diagnosis of spastic paraplegia 1, 3A, 4, 5A, 10, 11, 15, 17, 20, 21, 28, 30, 31, 39, 42, 44, 48, 56 (L1CAM, KIF5A, SPG11, ZFYVE26, BSCL2, SPG20, SPG21, KIF1A, REEP1, PNPLA6, DDHD1, ATL1, SPAST, SLC33A1, AP5Z1, GJC2, CYP7B1, CYP2U1 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) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of L1 syndrome (L1CAM gene / entire coding sequence)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Sachsen
DRESDEN

Diagnosis of L1 syndrome (L1CAM 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

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)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of hydrocephalus with stenosis of the aqueduct of Sylvius (L1CAM gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of L1 syndrome (L1CAM gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

AUSTRIA

WIEN
WIEN

Molecular diagnosis of X-linked hydrocephalus (L1CAM gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of hereditary spastic paraplegia (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)

SPAIN

Madrid
MADRID

Diagnosis of X-linked syndromic intellectual disability (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)

ITALY

VENETO
PADOVA

Molecular diagnosis of intellectual disability syndromes [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
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), Whole Exome Sequencing (WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of recessive diseases (panel, qCarrier Plus)
qGenomics
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of ataxia (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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of ventriculomegaly (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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of muscular diseases (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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of spastic paraplegia (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)

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)

PORTUGAL

NORTE
PORTO

Diagnosis of X-linked Hydrocephalus (L1CAM gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Galicia
A CORUÑA

Diagnosis of genetic peripheral neuropathy (panel - 107 genes)
Health In Code
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)

SPAIN

Galicia
A CORUÑA

Diagnosis of meurometabolic disease (panel - 18 genes)
Health In Code
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)

GERMANY

Hamburg
HAMBURG

Diagnosis of L1 syndrome (L1CAM gene)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of MASA syndrome (sequence analysis of the entire coding region of L1CAM gene)
Università degli Studi di Padova- Polo A.Vallisneri
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of MASA syndrome (L1CAM gene)
Progenie molecular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of X linked Hydrocephalus (L1CAM, Linkage analysis, PGD)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of L1 syndrome (L1CAM, sequencing analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of X-linked complicated corpus callosum dysgenesis (L1CAM gene)
LabGenetics - 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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of X-linked spastic paraplegia (PLP1, L1CAM genes)
LabGenetics - 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

GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of L1 syndrome (L1CAM 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

SPAIN

Cataluña
BADALONA

Diagnosis of MASA syndrome (L1CAM gene)
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

MOLISE
POZZILLI

Molecular diagnosis of L1CAM syndrome (L1CAM gene)
Istituto Neurologico Mediterraneo - IRCCS Neuromed
Purpose(s) : Post-natal diagnosis, Newborn screening
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

SPAIN

Cataluña
BADALONA

Diagnosis of hydrocephalus with stenosis of the aqueduct of Sylvius (L1CAM gene)
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

La Rioja
LOGROÑO

Diagnosis of intellectual disability (panel)
Hospital San Pedro
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)

SPAIN

La Rioja
LOGROÑO

Diagnosis of spastic paraplegia (panel)
Hospital San Pedro
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)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hydrocephalus with stenosis of the aqueduct of Sylvius (L1CAM gene)
LabGenetics - 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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hereditary spastic paraplegia (panel)
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) : NGS sequencing (except WES)