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Caption : Accreditation =Accreditation ;

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of Netherton disease (SPINK5 gene)
Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Diagnosis of Netherton syndrome (SPINK5 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

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of autosomal dominant hyper IgE syndrome (STAT3 gene)
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of Netherton syndrome (SPINK5 gene)
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) : Sanger sequencing

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of Netherton syndrome (SPINK5 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

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SWITZERLAND

Suisse Alémanique
AARAU

Accreditation Molecular diagnosis of Netherton syndrome (SPINK5 gene sequencing and deletion analysis)
Kantonsspital Aarau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Netherton syndrome (SPINK5 gene)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Netherton syndrome (SPINK5 gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of Netherton syndrome (SPINK5 gene)
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)

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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

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of syndromes with immunodeficiency (NGS screening panel, 38 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)

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Vision Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Primary Immunodeficiency (gene panel; PID00v17.1)
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)

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of skin diseases (NGS screening panel, 253 genes)
CeGaT GmbH
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)

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of immunodeficiencies (NGS screening panel, 230 genes)
CeGaT GmbH
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)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of primary immunodeficiency (Panel)
Hôpital Necker-Enfants Malades
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)

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BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation Diagnosis of ichthyosis (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation Diagnosis of primary immunodeficiencies (panel of 291 genes)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

OCCITANIE
TOULOUSE

Accreditation Diagnosis of congenital ichthyosis, epidermolysis bullosa and palmoplantar keratoderma (Panel)
CHU de Toulouse - Hôpital Purpan
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation Diagnosis of congenital ichthyosis (Panel)
Laboratoire Cerba
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)

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnostics of primary immunodeficiency (NGS screening panel: 408 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Baden-Württemberg
ULM

Accreditation Diagnosis of Netherton syndrome (SPINK5 gene)
DRK Baden-Württemberg/ Hessen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Netherton disease (SPINK5 gene)
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) : Sanger sequencing

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POLAND

Warszawa
WARSAW

Molecular diagnosis of Netherton disease (Analysis of SPINK5 mutations)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Andalucía
MÁLAGA

Diagnosis of Netherton syndrome (SPINK5 gene)
Health in Code. Málaga
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), Sanger sequencing

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POLAND

Warszawa
WARSAW

Molecular diagnosis of Netherton disease (Analysis of SPINK5 mutations)
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing, PCR based techniques

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SPAIN

Cataluña
TERRASSA

Diagnosis of Netherton syndrome (SPINK5 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

LAZIO
ROMA

Molecular diagnosis of Netherton syndrome (SPINK5 gene)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of Netherton syndrome (SPINK5 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

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of Netherton syndrome (SPINK5 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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)

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SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Netherton syndrome (SPINK5 gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Galicia
A CORUÑA

Diagnosis of rare genetic immune disease (panel - 458 genes)
Health In Code. A Coruña
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)

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SPAIN

Galicia
A CORUÑA

Diagnosis of primary immunodeficiency (panel - 301 genes)
Health In Code. A Coruña
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)

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SPAIN

Galicia
A CORUÑA

Diagnosis of syndrome with combined immunodeficiency (panel - 74 genes)
Health In Code. A Coruña
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)

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SPAIN

Galicia
A CORUÑA

Diagnosis of hyper-IgE syndrome (panel - 14 genes)
Health In Code. A Coruña
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)

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SPAIN

Cataluña
BARCELONA

Diagnosis of primary immunodeficiency (panel)
Hospital Universitari Vall d'Hebron
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)

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FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of keratinization troubles (histology, immunohistochemistry, electron microscopy)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Pathology
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

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FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of Netherton syndrome (histology, immunohistochemistry, electron microscopy, examination of hair shaft)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Pathology
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

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ITALY

LAZIO
ROMA

Molecular diagnosis of Netherton syndrome (SPINK5 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

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HUNGARY

Közép-Magyarország
BUDAPEST

Molecular diagnosis of Netherton disease (SPINK5 gene)
Department of Dermatology, Venereology and Dermatoncology, Semmelweis University
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
HEIDELBERG

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

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ITALY

LOMBARDIA
BRESCIA

Molecular diagnosis of Netherton syndrome (SPINK5 gene)
ASST Spedali Civili di Brescia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

OCCITANIE
TOULOUSE

Immunochemical diagnosis of Netherton syndrome
CHU de Toulouse - Hôpital Larrey
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

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PORTUGAL

NORTE
PORTO

Diagnosis of Netherton syndrome (SPINK5 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

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BELGIUM

OOST-VLAANDEREN
GENT

Immunochemical and molecular diagnosis of defect in antifungal immunity (chronic mucocutaneous candidiasis, hyper IgE syndrome) (IL17 secretion, Dectin-1 expression, Stat1 phosphorylation; gene analysis for Dectin-1 ,CARD9, IL17RA, IL17RC, IL17F, TRAF3IP2, CLEC7A, STAT1, RORC, STAT3, DOCK8, TYK2, PGM3, AIRE)
PID research lab (PIRL), UZ Gent - MRBII - Entrance 38
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics, Immunology
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Protein expression
Technique(s) : NGS sequencing (except WES), Immunohistochemistry, Whole Exome Sequencing (WES)

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SPAIN

Castilla - León
SALAMANCA

Diagnosis of Netherton syndrome (SPINK5 gene)
IBSAL - Instituto de Investigación Biomédica de Salamanca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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HUNGARY

Dél-Alföld
SZEGED

Ichthyosis
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

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PORTUGAL

SUL
LISBOA

Diagnosis of Netherton syndrome (SPINK5 gene)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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PORTUGAL

SUL
LISBOA

Diagnosis of Hyper-IgE recurrent infection syndrome, autosomal dominant and recessive (STAT3, DOCK8 genes)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Diagnosis of hyper-IgE syndrome
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Immunology

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