Search for a diagnostic test
39 Result(s)
Caption
: Accreditation
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OCCITANIE
TOULOUSE
Molecular diagnosis of anhydrotic ectodermal dysplasias (EDA, EDAR and EDARADD genes)
CHU de Toulouse - Hôpital Purpan
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, PCR based techniques

Suisse Romande
GENÈVE
Molecular diagnosis (MLPA) of X-linked anhidrotic ectodermal dysplasia (EDA gene)
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Cytogenetics
Technique(s)
: MLPA based techniques

South Glamorgan
CARDIFF
Molecular diagnosis of ectodermal dysplasia: hypohidrotic X-linked, anhidrotic autosomal dominant and autosomal recessive types (EDA, EDAR and EDARADD genes: Molecular diagnosis through sequencing and dosage analysis)
University Hospital of Wales
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

LAZIO
ROMA
Molecular diagnosis of Christ-Siemens-Touraine syndrome (EDA gene)
Azienda Ospedaliera Universitaria Policlinico di Tor Vergata
Purpose(s)
: Antenatal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing, PCR based techniques, MLPA based techniques

Groningen
GRONINGEN
Molecular diagnosis of Hypohidrotic Ectodermal Dysplasia (EDA, EDAR, EDARADD and WNT10A gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
REGENSBURG
Molecular diagnosis of ectodermal dysplasia (EDA, EDAR, TP63 genes)
Universitätsklinikum Regensburg
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), Sanger sequencing, MLPA based techniques

ILE-DE-FRANCE
PARIS
Diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD, WNT10A genes; mutations and MLPA)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Baden-Württemberg
FREIBURG
Molecular diagnosis of an-/hypohidrotic ectodermal dysplasia (EDAR, EDARADD, ED1 genes)
Praxis für Humangenetik Freiburg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

South Glamorgan
CARDIFF
Molecular diagnosis of Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency (IKBKG gene)
University Hospital of Wales
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Bayern
MÜNCHEN
Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)
Pränatalmedizin München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of ectodermal dysplasia (gene panel)
Reference Laboratory Genetics
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), Sanger sequencing, MLPA based techniques

Bayern
MÜNCHEN
Molecular diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD genes)
Pränatalmedizin München
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

Nordrhein-Westfalen
KÖLN
Molecular diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Hamburg
HAMBURG
Molecular diagnosis of ectodermal dysplasia dysplasia (EDA, EDAR, EDARADD genes)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Niedersachsen
OSNABRÜCK
Molecular diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD genes)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of ectodermal dysplasia (WNT10A, IKBKG, EDA, NECTIN1, NECTIN4, NFKBIA, GJB6, EDAR, and EDARADD genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

TOSCANA
FIRENZE
Molecular diagnosis of anhidrotic ectodermal dysplasia (ED1, EDAR, EDARADD, WNT10A genes)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Nordrhein-Westfalen
MÜNSTER
Molecular diagnosis of an-/hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD genes)
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

Andalucía
MÁLAGA
Diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR genes)
Genetaq
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)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Comunidad Valenciana
PATERNA
Diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR and EDARADD genes)
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)

Comunidad Valenciana
PATERNA
Molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia (EDA gene / complete sequencing, MLPA)
IMEGEN - Instituto de Medicina Genómica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

WIEN
WIEN
Molecular diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR, and EDARADD genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
STUTTGART
Molecular diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD, WNT10A genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Comunidad Valenciana
SANT JOAN D'ALACANT
Molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia (EDA gene / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Castilla - León
SALAMANCA
Diagnosis of X-linked hypohidrotic ectodermal dysplasia (EDA gene)
Universidad de Salamanca. Facultad de Medicina
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
ELCHE
Diagnosis of ectodermal dysplasia syndrome (gene panel)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

VENETO
PADOVA
Postnatal molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia (sequence analysis of the entire coding region of EDA gene)
Azienda Ospedaliera di Padova
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

País Vasco
SAN SEBASTIÁN
Diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD genes)
DNA Data
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), Sanger sequencing, MLPA based techniques

ILE-DE-FRANCE
PARIS
Diagnosis of Christ-Siemens-Touraine syndrome
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Pathology

ILE-DE-FRANCE
PARIS
Diagnosis of hypohidrotic ectodermal dysplasia
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Pathology

Dél-Alföld
SZEGED
Molecular diagnosis of X-linked anhidrotic ectodermal dysplasia (EDA gene)
University of Szeged - Paediatric Department
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

MARCHE
FANO
Molecular diagnosis of of autosomal dominant, autosomal recessive and X-linked forms of ectodermal dysplasia (EDA, EDAR, and EDARADD genes)
Associazione Cante di Montevecchio
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
JERUSALEM
Molecular diagnosis of Ectodermal Dysplasia X linked (EDA1, Linkage analysis, PGD)
Shaare Zedek Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
ERLANGEN
Molecular diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD genes)
Kinder- und Jugendklinik des Universitätsklinikums Erlangen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of hypohidrotic ectodermal dysplasia (EDA, EDAR, EDARADD genes)
Laboratorio de Genética Clínica, S.L.
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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Castilla - León
SALAMANCA
Diagnosis of Christ-Siemens-Touraine syndrome (EDA gene)
Innovagenomics, S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
HEIDELBERG
Electron microscopic diagnosis of Christ-Siemens-Touraine syndrome
Universitäts-Hautklinik Heidelberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Pathology

Comunidad Valenciana
PATERNA
Diagnosis of X-linked hypohidrotic ectodermal dysplasia (EDA 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

Dél-Alföld
SZEGED