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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

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of epidermolysis bullosa (genes: COL7A1, COL17A1, ITGB4, ITGA6, KRT5, KRT14, LAMB3, LAMC2 and LAMA3)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Accreditation
Diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene)
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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene)
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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of skin diseases (Panel)
Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, 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, Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Microsatellite analysis

NETHERLANDS

Groningen
GRONINGEN

Accreditation
Diagnosis of Epidermolysis Bullosa (Immunofluorescence and electron microscopy analysis of skin biopsies)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

SPAIN

Andalucía
MÁLAGA

Diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene: exons 73-75)
IMEGEN - Delegación Málaga
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Epidermolysis bullosa junctional type, juntional Herlitz type and dystrophic (LAMA3, LAMB3, LAMC2, COL17A1 and ITGB4 genes: Sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSZAWA

Molecular diagnosis of junctional epidermolysis bullosa (LAMB3, LAMC2, LAMA3 and COL17A1 gene)
Instytut Matki i Dziecka
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

SPAIN

La Rioja
LOGROÑO

Diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

SPAIN

Castilla - León
SALAMANCA

Diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene)
IBSAL - Instituto de Investigación Biomédica de Salamanca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

ITALY

LAZIO
ROMA

Molecular diagnosis of dystrophic epidermolysis bullosa (COL7A1, LAMC2, LAMB3 gene)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene)
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

ITALY

VENETO
PADOVA

Molecular diagnosis of rare cataract [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

Madrid
MADRID

Diagnosis of dermatological diseases (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

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of epidermolysis bullosa (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)

FRANCE

ILE-DE-FRANCE
PARIS

Typing of epidermolysis bullosa (immunohistochemistry, electronic microscopy on skin biopsy)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

ITALY

LAZIO
ROMA

Molecular diagnosis of epidermolysis bullosa dystrophica (COL7A1 gene)
Istituto Dermopatico dell'Immacolata - IRCCS
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, PCR based techniques

ITALY

LOMBARDIA
BRESCIA

Molecular diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene)
Università degli Studi di Brescia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

SALZBURG
SALZBURG

Diagnosis of Epidermolysis bullosa (gene panel)
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
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)

SWITZERLAND

Suisse Romande
LAUSANNE

Diagnosis of Epidermolysis bullosa by antigen mapping
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont -
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Immunology

UNITED KINGDOM

Greater London
LONDON

Diagnostic testing of Epidermolysis Bullosa using electron microscopy of skin biopsy samples
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

UNITED KINGDOM

Greater London
LONDON

Diagnostic testing of Epidermolysis Bullosa using immunofluorescence microscopy antigen mapping of skin biopsy samples
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Epidermolysis Bullosa (mutation screening of the COL7A1, ITGA6, ITGB4, LAMA3, LAMB3 & LAMC2 genes)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

HUNGARY

Közép-Magyarország
BUDAPEST

Molecular diagnosis of dystophic epidermolysis bullosa (COL7A1 gene)
Department of Dermatology, Venereology and Dermatoncology, Semmelweis University
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HAIFA

Molecular diagnosis of Epidermolysis Bullosa Lethalis (LAMC2, LAMB3, Linkage analysis)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HAIFA

Molecular diagnosis of Epidermolysis Bullosa Dystrophic (COL7A1, Linkage analysis)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

South Moravia
BRNO

Molecular diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene)
University hospital Brno
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
HEIDELBERG

Electron microscopic diagnosis of hereditary epidermolysis bullosa
Institut für Pathologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

GERMANY

Baden-Württemberg
HEIDELBERG

Electron microscopic diagnosis of dystrophic epidermolysis bullosa
Institut für Pathologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

GERMANY

Baden-Württemberg
FREIBURG

Electron microscopy and immunofluorescence mapping of epidermolysis bullosa
Universitäts-Klinik für Dermatologie und Venerologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of dystrophic epidermolysis bullosa (COL7A1 gene)
Universitäts-Klinik für Dermatologie und Venerologie
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 dystrophic epidermolysis bullosa (COL7A1 gene)
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
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 inherited epidermolysis bullosa (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)