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GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of primary ciliary dyskinesia (DNAH5, DNAH11, DNAI1 genes)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Molecular diagnosis of Primary Ciliary Dyskinesia (DNAH5 and DNAI1 genes) 
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of primary ciliary dyskinesia (CCDC39, CCDC40, DNAAF2, DNAH5, DNAH11, DNAI1, DNAI2, RSPH4A, RSPH9 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of primary ciliary dyskinesia (CCDC65, DNAAF2, DNAAF5, DNAI1, DNAI2, DNAH5, DNAH11, DYX1C1, LRRC6, NME8, OFD1, RPGR, RSPH1 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of primary ciliary dyskinesia (ARMC4, C21ORF59, CCDC103, CCDC39, CCDC40, CCDC65, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DYX1C1, HEATR2, LRRC6, NME8, RSPH9, RSPH4A, SPAG1 genes)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of primary ciliary dyskinesia (DNAAF1, DNAAF2, DNAH5, DNAH11, DNAI2, DNAI19, NME8, RSPH4A, RSPH9 genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of primary ciliary dyskinesia (DNAI1, DNAH5 genes)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Primary Ciliary Dyskinesia type 29 (CCNO 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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of ciliopathy (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
Technical procedure(s) : NGS sequencing (except WES)

UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation
Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis / Testing for known mutations in family members)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis

FRANCE

ILE-DE-FRANCE
PARIS

Molecular and ultrastructural diagnosis of primary ciliary dyskinesia (C21ORF59, DNAI1, DNAL1, DNAH5, TXDNC3, DNAI2, KTU, DNAH11, RSPH4A, RSPH9, CCDC39, CCDC40, CCDC65, CCDC103, CCDC114, CCDC151, DNAAF3, HEATR2, HYDIN, LRRC6, ARMC4, DYX1C1, RSPH1, SPAG1, ZMYND10, RPGR, CCNO, DRC1 genes)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Pathology
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

ITALY

VENETO
VENEZIA

Molecular diagnosis of primary ciliary dyskinesia (DNAI1, DNAH5, DNAH11, DNAI2, KTU genes)
Ospedale Civile S.S. Giovanni e Paolo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of primary ciliary dyskinesia (DNAH5, DNAI1 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

Comunidad Valenciana
PATERNA

Molecular diagnosis of primary ciliary dyskinesia (DNAH5 and DNAI1 genes)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of primary ciliary dyskinesia (DNAI1 and DNAH5 genes)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
PISA

Postnatal molecular diagnosis of primary ciliary dyskinesia (DNAH11, DNAH5, DNAI2, DNAI1, TXNDC3, CCDC39, RSPH9, RSPH4A genes)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
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

GERMANY

Nordrhein-Westfalen
MÜNSTER

Molecular diagnosis of primary ciliary dyskinesia (DNAH5, DNAH11, DNAI1 genes)
Institut für Humangenetik des Universitätsklinikums Münster
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 primary ciliary dyskinesia (DNAH11, DNAH5, DNAI1, RSPH9 genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Primary ciliary dyskinesia (DNAI1 and DNAH5 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of primary ciliary dyskinesia (DNAH11 gene: sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of primary ciliary dyskinesia (DNAH5, DNAI1 genes)
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

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of idiopathic bronchiectasis (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of primary ciliary dyskinesia (Panel)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of primary ciliary dyskinesia (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

ITALY

VENETO
PADOVA

Molecular diagnosis of primary ciliary dyskinesia (DNAI1, DNAH5, DNAH11, TXNDC3 and TEKTIN-2 genes)
Policlinico Universitario di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : Sanger sequencing

GREECE

ATTIKI
ATHENS

Study of ultrastructure and ciliary function
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

FRANCE

RHONE-ALPES
BRON

Molecular diagnosis of primary ciliary dyskinesia (DNAI1 and DNAH5 genes)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
BOCHUM

Examination of cilia function by phase contrast microscopy, cilia beat frequency measurement and video documentation
Klinik für Kinder- und Jugendmedizin im St. Josef-Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

GERMANY

Nordrhein-Westfalen
MÜNSTER

Quantitative and qualitative analysis of ciliary beat patterns by high-speed video microscopy analysis (HVMA)
Universitätsklinikum Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

GERMANY

Rheinland-Pfalz
KOBLENZ

Examination of cilia function by phase contrast microscopy, cilia beat frequency measurement and video documentation
Gemeinschaftsklinikum Mittelrhein, Kemperhof
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Pathology

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of primary ciliary dyskinesia (DNAH5, DNAI1, DNAH11, DNAI2, CCDC39, CCDC40, DNAAF1, LRRC6 genes)
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

GERMANY

Baden-Württemberg
TÜBINGEN

Molecular diagnosis of primary ciliary dyskinesia (NGS Screening Panel - genes: DNAH5, DNAAF2, DNAH11, DNAI1, DNAI2, TXNDC3)
Forschungsinstitut für Augenheilkunde
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

MOROCCO

Rabat
RABAT

Molecular diagnosis of male infertility due to Y chromosome deletions (AZF)
Institut National d'Hygiène
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

GERMANY

Nordrhein-Westfalen
MÜNSTER

Immunofluorescence (IF) diagnosis of primary ciliary dyskinesia
Universitätsklinikum Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technical procedure(s) : Immunohistochemistry

FRANCE

RHONE-ALPES
BRON

Diagnosis of congenital heart malformations (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)