Search for a diagnostic test
16 Result(s)
Caption
: Accreditation
= ;

GERMANY
Rheinland-Pfalz
INGELHEIM AM RHEIN
Molecular diagnosis of Caffey disease (COL1A1 gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SWITZERLAND
Suisse Alémanique
SCHLIEREN
Molecular diagnosis of Caffey disease (COL1A1 gene)
Universität Zürich
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

CANADA
Ontario
TORONTO
Molecular Diagnosis of Caffey Disease (COL1A1 targeted mutation analysis)
The Hospital for Sick Children and University of Toronto
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

GERMANY
Bayern
MÜNCHEN
Molecular diagnosis of Caffey disease (COL1A1 gene)
Pränatalmedizin München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Diagnosis of premature aging (Panel)
CHU de Marseille - Hôpital de la Timone
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)

FRANCE
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of bone diseases (Panel)
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s)
: Antenatal diagnosis, 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

FRANCE
ILE-DE-FRANCE
LE CHESNAY
Diagnosis of bone diseases (Panel)
CH de Versailles - Hôpital André Mignot
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)

FRANCE
OCCITANIE
TOULOUSE
Diagnosis of bone diseases (Panel)
CHU de Toulouse - Hôpital Purpan
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)

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of primary bone dysplasia (gene panel)
Reference Laboratory Genetics
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

GERMANY
Niedersachsen
OSNABRÜCK
Molecular diagnosis of Caffey disease (COL1A1 gene)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

SPAIN
Comunidad Valenciana
PATERNA
Molecular diagnosis of Caffey disease (COL1A1 gene)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

FRANCE
OCCITANIE
MONTPELLIER
Diagnosis of bone diseases (Panel)
CHRU de Montpellier - Hôpital Arnaud de Villeneuve
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)

AUSTRIA
WIEN
WIEN
Molecular diagnosis of Caffey disease (COL1A1 gene)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ITALY
EMILIA ROMAGNA
BOLOGNA
Molecular diagnosis of Caffey disease (COL1A1 gene)
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

GERMANY
Nordrhein-Westfalen
DÜSSELDORF
Array-CGH in case of unexplained developmental delay
Praenatal-Medizin und Genetik, Düsseldorf
Purpose(s)
: Antenatal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques

SPAIN
Madrid
SAN SEBASTIÁN DE LOS REYES