Search for a diagnostic test
66 Result(s)
Laboratory officially designated for this diagnostic test
= Accreditation
=
;

Suisse Romande
GENÈVE
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
Service(s)
: Deletion / Duplication analysis, Detection of chromosome alterations large in size array based techniques, fish

Bayern
MÜNCHEN
Diagnosis of rare syndromic intellectual disability (NGS screening panel: 640 genes)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis ngs sequencing (except wes)

Noord-Holland
AMSTERDAM
Diagnosis of Sterol Metabolism Disorders (Analyte: Sterols)
Amsterdam UMC, locatie AMC
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Service(s)
: Analyte / Enzyme assay

Gelderland
NIJMEGEN
Diagnosis of Metabolic Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

Gelderland
NIJMEGEN
Molecular diagnosis of Intellectual Disability (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

Baden-Württemberg
FREIBURG
Diagnosis of CK syndrome (NSDHL gene)
SYNLAB MVZ Freiburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region sanger sequencing

Nordrhein-Westfalen
KÖLN
Diagnosis of rare genetic intellectual disability (NGS screening panel: ~2500 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

Bayern
MÜNCHEN
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
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing

GRAND-EST
STRASBOURG
Diagnosis of intellectual disability (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

ILE-DE-FRANCE
PARIS
Diagnosis of intellectual disability (Panel)
Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Mutation scanning/screening and sequence analysis of selected exons 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
Service(s)
: Mutation scanning/screening and sequence analysis of selected exons ngs sequencing (except wes)

BRETAGNE
BREST
Diagnosis of intellectual disability (Panel)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

Bayern
MÜNCHEN
Diagnosis of X-linked intellectual disability (NGS panel, 115 genes)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

CENTRE-VAL DE LOIRE
TOURS
Diagnosis of intellectual disability (Panel)
CHRU de Tours - Hôpital Bretonneau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

Bayern
MÜNCHEN
Diagnosis of mental retardation and dysmorphology (NGS screening panel, 353 genes)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

Madrid
MAJADAHONDA
Diagnosis of rare genetic intellectual disability
Instituto de Salud Carlos III. Campus de Majadahonda
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of cholesterol synthesis deficits (Panel)
CHU de Lyon HCL - GH Est
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing

GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of intellectual disability and/or epilepsy (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

Noord-Holland
AMSTERDAM
Diagnosis of CK Syndrome (NSDHL gene)
Amsterdam UMC, locatie AMC
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted mutation analysis, Sequence analysis: entire coding region sanger sequencing, mlpa based techniques

HAUTS-DE-FRANCE
AMIENS
Diagnosis of intellectual disability (Clinical exome)
CHU Amiens-Picardie - Site Sud
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted mutation analysis, Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

ILE-DE-FRANCE
PARIS
Diagnosis of intellectual disability (Whole exome)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of rare genetic syndromic intellectual disability (Whole exome)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

NOUVELLE AQUITAINE
POITIERS
Diagnosis of developmental abnormalities (Whole exome)
CHU de Poitiers
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

TRENTINO ALTO ADIGE
ROVERETO
Diagnosis of intellectual disability and autism [panel of genes]
MAGI'S LAB srl
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted mutation analysis ngs sequencing (except wes), sanger sequencing

LIEGE
LIEGE
Diagnostic of rare genetic intellectual disability (gene panel)
CHU de Liège - UniLab Lg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of neurodevelopmental disorders (gene panel)
Hôpital Universitaire de Bruxelles (H.U.B) - Site Hôpital Erasme
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of malformations of cortical development (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of rare forms of neurodevelopmental disorders (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of intellectual disabilities (gene panel)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

ANTWERPEN
ANTWERPEN-EDEGEM
Diagnosis of intellectual disabilities (gene panel)
Centrum Medische Genetica - UZA
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
Diagnosis of rare genetic developmental defect during embryogenesis (Whole exome)
Centre de Biologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted mutation analysis, Sequence analysis: entire coding region sanger sequencing, whole exome sequencing (wes)

ILE-DE-FRANCE
PARIS
Diagnosis of developmental abnormalities and intellectual disability (Whole exome)
Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

BRETAGNE
BREST
Diagnosis of intellectual disability (Whole exome)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

CENTRE-VAL DE LOIRE
TOURS
Diagnosis of intellectual disability (Whole exome)
CHRU de Tours - Hôpital Bretonneau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

GRAND-EST
REIMS
Diagnosis of developmental abnormalities (Whole exome)
CHU de Reims - Hôpital Robert Debré
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

ILE-DE-FRANCE
PARIS
Diagnosis of developmental abnormalities without intellectual disability (Whole exome)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

ILE-DE-FRANCE
LE CHESNAY
Diagnosis of neurodevelopmental disorders and malformation syndromes (Whole exome)
CH de Versailles - Hôpital André Mignot
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

Nordrhein-Westfalen
DORTMUND
Diagnosis of X-linked intellectual disability (NGS-Screening-Panel, 92 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of intellectual disability (Panel)
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

BRETAGNE
RENNES
Diagnosis of neurodevelopmental disorders (Whole exome)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

PAYS DE LA LOIRE
NANTES
Diagnosis of intellectual disability (Whole exome)
CHU de Nantes - Institut de Biologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of developmental defects during embryogenesis (Whole exome)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of intellectual disability (Clinical exome)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

Bayern
MÜNCHEN
Diagnosis of Intellectual Disability (NGS panel: 375 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of intellectual disability (Whole Exome)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of inborn errors of metabolism (Whole Exome)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

Bayern
MÜNCHEN
Diagnosis of brain malformations (NGS panel: 900 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

GRAND-EST
METZ
Diagnosis of rare intellectual disability of genetic origin
CHR de Metz-Thionville
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Methylation analysis, Deletion / Duplication analysis array based techniques

GRAND-EST
METZ
Diagnosis of rare syndromic intellectual disability of genetic origin
CHR de Metz-Thionville
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Methylation analysis, Deletion / Duplication analysis array based techniques

Suisse Alémanique
BASEL
Diagnosis of intellectual disability by Twist Comprehensive Exome Panel
Universitätsspital Basel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

Suisse Alémanique
BASEL
Diagnosis of developmental disorders by Twist Comprehensive Exome Panel
Universitätsspital Basel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

Noord-Holland
AMSTERDAM
Diagnosis of Sterol Biosynthesis Defect (Sterol Profiling)
Amsterdam UMC, locatie AMC
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Service(s)
: Analyte / Enzyme assay

Utrecht
UTRECHT
Biochemical diagnosis of Sterol Biosynthesis Disorders (Analyte: Mevalonic Acid, Sitosterol, Desmosterol, Lathosterol, Lanosterol, Squaleen, 7-Dehydrocholesterol, 8-Dehydrocholesterol and Cholesterol)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Service(s)
: Analyte / Enzyme assay

Comunidad Valenciana
ELCHE
Diagnosis of CK syndrome (NSDHL gene)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

VENETO
PADOVA
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
Service(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of CK syndrome (NSDHL gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region sanger sequencing

BOURGOGNE-FRANCHE-COMTE
DIJON
Diagnosis of developmental abnormalities and intellectual disability - Neurodegenerative and sensory diseases(Whole exome)
CHU de Dijon - Plateau technique de Biologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

Cataluña
SABADELL
Diagnosis of intellectual disability/autism (panel)
Parc Taulí Hospital Universitari. Centre de Medicina Genòmica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), whole exome sequencing (wes)

GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of rare inborn errors of metabolism (Whole exome)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

Extremadura
BADAJOZ
Diagnosis of rare genetic intellectual disability
Hospital Universitario de Badajoz
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), array based techniques, whole exome sequencing (wes)

Extremadura
BADAJOZ
Diagnosis of rare genetic developmental defect during embryogenesis
Hospital Universitario de Badajoz
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), array based techniques, whole exome sequencing (wes)

Bayern
ERLANGEN
Diagnosis of unspecific developmental delay (NGS screening panel: 1666 genes)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

Québec
SHERBROOKE
Biochemical diagnosis of Sterol metabolism disorder (Analyte: Sterols by GC/MS)
CIUSSS de l'Estrie - CHUS Fleurimont
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Service(s)
: Analyte / Enzyme assay

NORTE
PORTO
Mental retardation, X-linked syndromic, Lubs type (gene MECP2)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis pcr based techniques, mlpa based techniques

NORTE
PORTO
Diagnosis of CK syndrome (NSDHL gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

Cataluña
BARCELONA