Skip to
  1. Homepage
  2. Diagnostic tests
  3. Search a test
Simple search

Simple search

*
(*) mandatory field


 

17 Result(s)

Result(s)sorted by
Speciality(ies)/objective(s)
(15)
(6)
(4)
(3)
(3)
(2)
Technique(s)
(3)
(8)
(1)
(1)
(4)
Purpose(s)
(17)
Quality management
(9)
(17)
Country(ies)
(9)
(1)
(2)
(2)
(2)
(1)
RESET
Result(s)sorted by

Caption : Accreditation =Accreditation
;

    • Accreditation
    • Search of genomic DNA duplications and/or deletions by array-CGH
    • Centre Hospitalier Universitaire Vaudois CHUV
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : Array based techniques
    • More information
    • SWITZERLAND
    • Suisse Romande
    • LAUSANNE
    • Accreditation
    • Search of genomic DNA duplications and/or deletions by CGH arrays / chromosomal microarrays
    • Universität Zürich
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics, Cytogenetics
    • Objective(s) : Deletion / Duplication analysis
    • Technical procedure(s) : Array based techniques
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Accreditation
    • Molecular diagnosis in case of Multiple Congenital Anomalies (SNP-array)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis in case of Unexplained Intellectual Deficit with Multiple Congenital Anomalies (SNP-array)
    • Radboudumc - Radboud universitair medisch centrum
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Accreditation
    • Molecular diagnosis of Mandibulofacial Dysostosis (Guion-Almeida Type) by sequencing of the entire coding region of gene (s) (EFTUD2 gene)
    • Royal Devon and Exeter Hospital - Wonford site
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • UNITED KINGDOM
    • Devon
    • EXETER
    • Accreditation
    • Molecular diagnosis of nmandibulofacial dysostosis-microcephaly syndrome (EFTUD2 gene)
    • Universitätsklinikum Regensburg
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • Technical procedure(s) : Sanger sequencing
    • More information
    • GERMANY
    • Bayern
    • REGENSBURG
    • Accreditation
    • Diagnosis of CHARGE, MFDM syndromes (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)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Accreditation
    • Diagnosis of intellectual disability (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
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Accreditation
    • Diagnosis of limb malformations (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)
    • More information
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • Molecular diagnosis of intellectual deficiency and congenital malformation (cryptic subtelomeric and intercalated anomalies by array CGH)
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of microdeletions/microduplications
    • Technical procedure(s) : Array based techniques
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of brachydactyly type E (HOXD13 gene)
    • Ospedali Galliera
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • More information
    • ITALY
    • LIGURIA
    • GENOVA
    • 'Molecular diagnosis of Treacher-Collins syndrome and mandibulofacial dysostosis (sequencing of genes POLR1D and POLR1C ; copy number of TCOF1 gene by MLPA and QPCR ; EFTUD2 gene)'
    • CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Lariboisière
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Molecular diagnosis of dysmorphological syndromes by CGH array
    • CHRU de Brest - Hôpital Morvan
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Cytogenetics
    • Objective(s) : Detection of microdeletions/microduplications
    • Technical procedure(s) : Array based techniques
    • More information
    • FRANCE
    • BRETAGNE
    • BREST
    • Postnatal molecular diagnosis of mandibulofacial dysostosis, Guion-Almeida type (sequence analysis of the entire coding region of EFTUD2 gene)
    • Azienda Ospedaliera di Padova
    • 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
    • More information
    • ITALY
    • VENETO
    • PADOVA
    • Diagnosis of corpus callosum agenesis or dysgenesis syndrome (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)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Diagnosis of mandibulofacial dysostosis (Panel)
    • CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Lariboisière
    • 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)
    • More information
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Diagnosis of malformation syndrome with cleft palate (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
    • Technical procedure(s) : NGS sequencing (except WES)
    • More information
    • FRANCE
    • LANGUEDOC-ROUSSILLON
    • MONTPELLIER