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Caption : Accreditation =Accreditation
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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Conradi-Hünermann-Happle Syndrome (EBP gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of chondrodysplasia punctata (AGPS, ARSE, EBP, GNPAT, PEX7 genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

UNITED KINGDOM

Lanarkshire
GLASGOW

Accreditation
Molecular diagnosis of X-linked Ichthyosis by Sequencing of the entire coding region of gene (s) / targetted copy number analysis (STS gene)
Southern General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of X-linked dominant chondrodysplasia punctata (EBP gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Connective Tissue Disorder with Bone Involvement NGS Panel and Del/Dup Analysis (43 genes)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Array based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of X-linked Chondrodysplasia Punctata type 2 (EBP gene)
Radboudumc - Radboud universitair medisch centrum
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
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Devon
EXETER

Accreditation
Molecular diagnosis of Chondrodysplasia Punctata (EBP, PEX7, DHAPAT, AGPS and ARSE genes)
Royal Devon and Exeter Hospital - Wonford site
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Devon
EXETER

Accreditation
Molecular diagnosis of Chondrodysplasia Punctata (X-linked)
Royal Devon and Exeter Hospital - Wonford site
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Sterol Biosynthesis Defect (Sterol Profiling)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Sterol Metabolism Disorder (Analyte: Sterols)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Sterol Biosynthesis Disorders (Analyte: Mevalonic Acid, Sitosterol, Desmosterol, Lathosterol, Lanosterol, Squaleen, 7-Dehydrocholesterol, 8-Dehydrocholesterol and Cholesterol)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of chondrodysplasia punctata (ARSE, EBP, GNPAT, PEX7 genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Madrid
CANTOBLANCO

Biochemical diagnosis of sterol biosynthesis disorders
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular diagnosis of chondrodysplasia punctata (EBP gene)
bio.logis Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of X-linked dominant chondrodysplasia punctata (EBP gene / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

CANADA

Québec
SHERBROOKE

Biochemical diagnosis of Sterol metabolism disorder (Analyte: Sterols by GC/MS)
CHU Sherbrooke - Hôpital Fleurimont
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Castilla - León
SALAMANCA

Molecular diagnosis of X-linked dominant chondrodysplasia punctata (EBP gene / sequencing)
Universidad de Salamanca. Facultad de Medicina
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Conradi-Hünermann-Happle Syndrome (EBP gene)
IRCCS Ospedale Pediatrico Bambino Gesů
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of X-linked dominant chondrodysplasia punctata
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

Diagnosis of X-linked dominant chondrodysplasia punctata (EBP gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of X-linked dominant chondrodysplasia punctata (EBP gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

POITOU-CHARENTES
POITIERS

Diagnosis of X-linked chondrodysplasia punctata (EBP gene mutations)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of X-linked ichthyosis (STS gene)
DNA Data
Purpose(s) : 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

FRANCE

ILE-DE-FRANCE
PARIS

Biochemical diagnosis of chondrodysplasia punctata X-linked due to delta 8,7 dehydrocholesterol isomerase deficiency
Faculté de Médecine Pierre et Marie Curie - Hôpital Saint-Antoine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluńa
BARCELONA

Biochemical diagnosis of X-linked dominant chondrodysplasia punctata.
Centro de Diagnóstico Biomédico - CDB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

Biochemical and molecular diagnosis of X-linked dominant chondrodysplasia punctata (CDPX2)
CGMJM - Centro de Genética Médica Jacinto Magalhăes
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

HUNGARY

Közép-Magyarország
BUDAPEST

Molecular diagnosis of X-linked dominant chondrodysplasia punctata (EBP gene)
Department of Dermatology, Venereology and Dermatoncology, Semmelweis University
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Biochemical diagnosis of non rhizomelic type of punctata chondrodysplasia
Faculté de Médecine Pierre et Marie Curie - Hôpital Saint-Antoine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Biochemical diagnosis of Conradi-Hunermann syndrome (sterols in plasma)
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ISRAEL

ISRAEL
BEER YAAKOV

Molecular diagnosis of Chondrodysplasia Punctata (EBP, Mutation analysis)
Assaf Harofeh Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of X-linked dominant chondrodysplasia punctata (EBP gene)
Medgene s.r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of X-linked dominant chondrodysplasia punctata (EBP 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

SPAIN

Castilla - León
SALAMANCA

Molecular diagnosis of chondrodysplasia punctata (EBP gene)
Innovagenomics, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
HEIDELBERG

Electron microscopic diagnosis of ichthyosis
Universitäts-Hautklinik Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

NETHERLANDS

Limburg
MAASTRICHT

Molecular diagnosis of Conradi-Hünermann-Happle Syndrome (EBP gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MAJADAHONDA

Molecular diagnosis of X-linked dominant chondrodysplasia punctata (sequencing of EBP gene)
Genyca Innova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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
Technical procedure(s) : Sanger sequencing