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SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Search of genomic DNA duplications and/or deletions by array-CGH
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Search of genomic DNA duplications and/or deletions by CGH arrays / chromosomal microarrays
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of microdeletion and microduplication syndromes by FISH and array CGH
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques, FISH

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular cytogenetic diagnosis of Distal Monosomy 9q34 (by FISH analysis)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technical procedure(s) : FISH

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Kleefstra Syndrome (EHMT1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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
Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis in case of Multiple Congenital Anomalies (SNP-array)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis in case of Unexplained Intellectual Deficit with Multiple Congenital Anomalies (SNP-array)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Kleefstra syndrome (EHMT1 gene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of intellectual deficiency and congenital malformation (cryptic subtelomeric and intercalated anomalies by array CGH)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of Kleefstra syndrome (EHMT1 gene)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Madrid
MADRID

Molecular diagnosis of Kleefstra syndrome due to monosomy 9q34 (9q34 / MLPA KIT SALSA P340)
Fundación Jiménez Díaz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

SPAIN

País Vasco
DERIO

Molecular diagnosis of Kleefstra syndrome due to monosomy 9q34 (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

BRETAGNE
BREST

Molecular diagnosis of dysmorphological syndromes by CGH array
CHRU de Brest - Hôpital Morvan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : Array based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of Kleefstra syndrome (EHMT1 gene / array-CGH)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

SPAIN

Madrid
MADRID

Molecular diagnosis of chromosomal anomalies (array-CGH)
NIMGenetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

SPAIN

Comunidad Valenciana
ALICANTE

Preimplantation and postnatal molecular diagnosis of chromosomal anomalies (array-CGH)
Hospital Clínica Vistahermosa
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technical procedure(s) : Array based techniques

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of Kleefstra syndrome (EHMT1 gene)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ITALY

LAZIO
ROMA

Molecular diagnosis of Kleefstra syndrome (EHMT1 gene)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of Kleefstra syndrome (EHMT1 gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Cataluña
SABADELL

Molecular and molecular cytogenetics diagnosis of Kleefstra syndrome due to 9q34 microdeletion (EHMT1 gene / arrayCGH, MLPA, FISH)
Corporación Sanitaria Parc Taulí
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : MLPA based techniques, Array based techniques, FISH

FRANCE

CHAMPAGNE-ARDENNE
REIMS

Diagnosis of Kleefstra syndrome (EHMT1 gene)
CHU de Reims - Hôpital Maison Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ALSACE
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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

RHONE-ALPES
BRON

Diagnosis of intellectual disability (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

POITOU-CHARENTES
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
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Rheinland-Pfalz
KAISERSLAUTERN

Molecular cytogenetic diagnosis of 9q subtelomere deletion syndrome
Med-Biolog-Labor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technical procedure(s) : FISH

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of intellectual disability (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
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Kleefstra syndrome (EHMT1 gene)
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
Technical procedure(s) : Sanger sequencing