x

Search for a diagnostic test

* (*) mandatory field

18 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular cytogenetic test for ICF syndrome
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Cytogenetic diagnosis of ICF syndrome
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Cytogenetic diagnosis of ICF syndrome (by conventional karyotyping)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Cytogenetic diagnosis of ICF syndrome (by chromosome analysis)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular Diagnosis of Mismatch Repair Cancer Syndrome (MSH6 gene: targeted mutation analysis)
The Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of ICF syndrome (DNMT3B gene)
Pränatalmedizin München
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

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of ICF syndrome (DNMT3B gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Molecular diagnosis of ICF syndrome (DNMT3B gene)
CHU Paris - 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
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

GERMANY

Baden-Württemberg
ULM

Accreditation
Molecular diagnosis of ICF syndrome (DNMT3B 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

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Nucleotide Excision Repair Disorder (Gene Panel; 16 genes: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of hereditary immune deficiencies (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
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)

CANADA

Alberta
CALGARY

Cytogenetic Diagnosis of Chromosomal Breakage/Instability Syndrome (chromosomal breakage analysis)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Chromosomal instability

ITALY

CAMPANIA
NAPOLI

Cytogenetics diagnosis of ICF syndrome
P.S.I. "Elena d'Aosta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ITALY

SICILIA
CATANIA

Cytogenetics diagnosis of ICF syndrome
Azienda Ospedaliero Universitaria "Policlinico Vittorio Emanuele"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ITALY

FRIULI VENEZIA GIULIA
UDINE

Cytogenetic diagnosis of ICF syndrome
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

GERMANY

Baden-Württemberg
ULM

Immunological diagnosis of primary immunodeficiencies (PID) - Immunophenotyping including adhesion molecules
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Immunology

CANADA

Québec
QUÉBEC

Cytogenetic diagnosis of chromosomal breakage syndromes
CHUQ - Hôpital Saint-Francois d'Assise
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of ICF syndrome (DNMT3B, ZBTB24 genes)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Pre-symptomatic diagnosis, Somatic genetics
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) : Sanger sequencing