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GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (CDKN1C, KCNQ1OT1, H19 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, BS-Pyrosequencing, Microsatellite analysis

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Beckwith-Wiedemann Syndrome (CDKN1C, H19 and KCNQ1OT1 gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Array based techniques, Microsatellite analysis

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (H19 and KCNQ1OT1 genes: methylation status/MLPA)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (CDKN1C gene: sequencing of exon 1,2; KCNQ1OT1 gene: MLPA)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

UNITED KINGDOM

Cambridgeshire
ST NEOTS

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (CDKN1C gene: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members; H19, IGF2, KCNQ1OT1 genes: Targetted mutation analysis)
The Aplastic Anaemia Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Hemihyperplasia (KCNQ1OT1, H19 and UPD11p15)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques, Microsatellite analysis

GERMANY

Nordrhein-Westfalen
ESSEN

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (CDKN1C gene, MS-MLPA, microsatellite analysis,)
Universitätsklinikum Essen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Asturias
OVIEDO

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (H19, IGF2, KCNQ1OT1 genes; 11p.15.5)
Hospital Universitario Central de Asturias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Sachsen
DRESDEN

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (CDKN1C, H19, KCNQ1OT1, NSD1 genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Beckwith-Wiedemann Syndrome (by methylation, UPD analysis, DNA sequencing of CDKN1C)
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, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques, Microsatellite analysis

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (CDKN1C, H19, KCNQ1OT1, NSD1 genes: sequencing, MLPA)
Pränatal-Medizin München MVZ GmbH
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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (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)

SPAIN

Murcia
EL PALMAR

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (CDKN1C, H19, IGF2, KCNQ1OT1 genes)
Centro de Bioquímica y Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Array based techniques

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of multiple congenital anomalies/dysmorphic syndrome (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

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (CDKN1C, H19, IGF2 and KCNQ1OT1 genes)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of Beckwith-Wiedemann syndrome (11p15 region ; CDKN1C, H19 and IGF2 genes)
AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

ITALY

LOMBARDIA
CUSANO MILANINO

Molecular diagnosis of Beckwith-Wiedemann syndrome (H19, LIT1, UPD11, CDKN1C genes)
Istituto Auxologico Italiano
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Detection of chromosome alterations large in size
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Array based techniques, FISH

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Beckwith-Wiedemann syndrome (panel)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : MLPA based techniques, Whole Exome Sequencing (WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Beckwith-Wiedemann syndrome (KCNQ1OT1, CDKN1C genes)
LabGenetics - 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, Uniparental disomy study, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques, Microsatellite analysis

SPAIN

Cataluña
BARCELONA

Diagnosis of Beckwith-Wiedemann syndrome (CDKN1C, H19, IGF2, KCNQ1OT1 genes)
Hospital Universitari Vall d'Hebron
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Schleswig-Holstein
KIEL

Diagnosis of Beckwith-Wiedemann syndrome (H19 and KCNQ1OT1 genes: methylation status/MLPA)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Schleswig-Holstein
KIEL

Diagnosis of Silver-Russell syndrome (H19 and KCNQ1OT1 genes: methylation status/MLPA)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Beckwith-Wiedemann syndrome (H19, IGF2, and CDKN1C genes)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

AUSTRIA

WIEN
WIEN

Diagnosis of Beckwith-Wiedemann syndrome (H19 and KCNQ1OT1 genes)
Labordiagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of Beckwith-Wiedemann syndrome (NSD1, H19, IGF2, KCNQ1OT1, CDKN1C genes)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of Beckwith-Wiedemann syndrome due to imprinting defect or microdeletion in 11p15 (KCNQ1OT1, H19 genes)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of Beckwith-Wiedemann syndrome (H19, IGF2, KCNQ1OT1 genes; 11p.15.5)
Hospital Universitari Son Espases
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

Cataluña
SABADELL

Diagnosis of Beckwith-Wiedemann syndrome (CDKN1C, H19, IGF2, KCNQ1OT1 genes)
Corporación Sanitaria Parc Taulí
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, Array based techniques, Microsatellite analysis

PORTUGAL

NORTE
PORTO

Diagnosis of Beckwith-Wiedemann syndrome (H19 and KCNQ1OT1 genes)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques