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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of split hand-split foot malformation (BTRC gene)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
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
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Array based techniques, FISH

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Split Hand/Foot Malformation (TP63 and WNT10B 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

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of TP73L gene-associated diseases
SYNLAB MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
MÜNSTER

Accreditation
Diagnosis of TP63 gene-associated syndromes (EEC3, SHFM4, Hay-Wells syndrome, ADULT syndrome, Limb-Mammary syndrome and others)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
AARAU

Accreditation
Molecular diagnosis of p63 gene-associated diseases (sequencing and deletion analysis)
Kantonsspital Aarau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

SWITZERLAND

Suisse Alémanique
AARAU

Accreditation
Molecular diagnosis of Split-hand/foot malformation (WNT10B gene sequencing and deletion analysis)
Kantonsspital Aarau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of split hand-foot malformation (WNT10B 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

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of TP63 gene-associated diseases
SYNLAB MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Molecular diagnosis of Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate syndrome 3 (EEC3, TP63 gene: Molecular diagnosis through sequencing analysis)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
WÜRZBURG

Accreditation
Diagnosis of split hand-split foot malformation (10q24.3, 17p13.3)
Universität Würzburg - Biozentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Detection of microdeletions/microduplications
Technique(s) : PCR based techniques, Array based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of TP63 gene-associated diseases
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of split hand-foot malformation (WNT10B gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Diagnosis of Split hand-split foot malformation (WNT10B gene)
Medizinische Universität Innsbruck
Purpose(s) : 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 ectrodactyly and related disorders (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)

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

Hamburg
HAMBURG

Accreditation
Diagnosis of TP63 gene-associated diseases
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Diagnosis of skeletal dysplasia (gene panel)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation
Diagnosis of developmental abnormalities (Whole exome)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

NORMANDIE
ROUEN

Accreditation
Diagnosis of developmental abnormalities and intellectual disability (Whole exome)
CHU de Rouen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of skeletal dysplasia (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of rare genetic developmental defect during embryogenesis (Whole exome)
Centre de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, Whole Exome Sequencing (WES)

FRANCE

GRAND-EST
REIMS

Accreditation
Diagnosis of developmental abnormalities (Whole exome)
CHU de Reims - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
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
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

GERMANY

Bayern
BAD STEBEN

Diagnosis of split hand split foot malformation type 4 (TP63 gene)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

CAMPANIA
NAPOLI

Diagnosis of nonsyndromic split hand - split foot malformation (TP63 gene)
Biotecnologie Avanzate Srl
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) : Sanger sequencing

POLAND

Poznan
POZNAN

Molecular diagnosis of split hand - split foot malformation (TP63 gene)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of TP63 gene-associated diseases
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Sachsen
DRESDEN

Diagnosis of TP63 gene-associated diseases (sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of isolated split hand-split foot malformation (DLX5, SEM1, TP63, WNT10B genes)
LabGenetics - Laboratorio de Genética Clínica, S.L.
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
Technique(s) : Sanger sequencing

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of isolated split hand-split foot malformation (SEM1 gene)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of TP63 gene-associated diseases
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LAZIO
ROMA

Molecular cytogenetic diagnosis of split hand-split foot malformation (SHFM1 gene / array-CGH)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

AUSTRIA

WIEN
WIEN

Molecular diagnosis of split hand-split foot malformation (TP63 and WNT10B genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of idiopathic intellectual disability, autism, growth delay, and / or multiple congenital anomalies (qChip« Post)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of ectodermal dysplasia syndrome (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 bone dysplasia (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)

ITALY

LOMBARDIA
PAVIA

Diagnosis of disproportionate/syndromic short stature and skeletal dysplasia [panel of genes]
Microgenomics S.r.l.
Purpose(s) : Post-natal 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 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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of cardiopathies (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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of congenital deafness (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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Diagnosis of split hand-foot (TP63 gene)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Split hand-split foot malformation (WNT10B and DLX5 genes: Sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of neural tube closure defect (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

HUNGARY

Dél-Alföld
SZEGED

Split-hand/foot malformation
University of Szeged Deparment of Medical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing