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

FRANCE
CENTRE-VAL DE LOIRE
TOURS
Molecular diagnosis of FG syndrome (MED12 and UPF3B genes: total sequencing)
CHRU de Tours - Hôpital Bretonneau
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NETHERLANDS
Gelderland
NIJMEGEN
Molecular diagnosis of Opitz-Kaveggia Syndrome (MED12 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Rheinland-Pfalz
INGELHEIM AM RHEIN
Molecular diagnosis of FLNA gene associated filaminopathies (sequencing)
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

NETHERLANDS
Groningen
GRONINGEN
Molecular diagnosis of Opitz-Kaveggia Syndrome (MED12 gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NETHERLANDS
Gelderland
NIJMEGEN
Molecular diagnosis of X-linked Syndromic Intellectual Deficit type 14 (UPF3B gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Baden-Württemberg
FREIBURG
Molecular diagnosis of FLNA gene associated filaminopathies
Praxis für Humangenetik Freiburg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Bayern
MARTINSRIED
Molecular diagnosis of FLNA gene associated filaminopathies
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Bayern
MÜNCHEN
Molecular diagnosis of FLNA gene associated filaminopathies
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

GERMANY
Bayern
MÜNCHEN
Molecular diagnosis of FG syndrome phenotypic spectrum (BRWD3, CASK, FLNA, UPF3B genes)
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

FRANCE
GRAND-EST
STRASBOURG
Diagnosis of intellectual disability (Panel)
CHU de Strasbourg - Hôpital Civil
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
NORMANDIE
ROUEN
Diagnosis of intellectual disability (Panel)
Faculté de médecine et de pharmacie de Rouen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of FG syndrome phenotypic spectrum (CASK gene)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of FG syndrome (gene 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)

UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
Molecular diagnosis of FG syndrome (mutation analysis of exon 21 of MED12 gene)
Addenbrooke's Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

GERMANY
Baden-Württemberg
TÜBINGEN
Molecular diagnosis of FLNA gene associated filaminopathies
CeGaT 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
Comunidad Valenciana
PATERNA
Molecular diagnosis of FG syndrome (FLNA, MED12 genes)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

PORTUGAL
NORTE
PORTO
Molecular diagnosis of Opitz-Kaveggia syndrome (MED12 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
SANT JOAN D'ALACANT
Molecular diagnosis of FG syndrome (MED12 gene / entire coding sequence)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

PORTUGAL
NORTE
PORTO
Molecular diagnosis of FG syndrome (CASK gene: deletion/duplication analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

GERMANY
Baden-Württemberg
STUTTGART
Molecular diagnosis of FLNA gene associated filaminopathies
Klinikum Stuttgart - Standort Olgahospital
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

GERMANY
Baden-Württemberg
FREIBURG
Molecular diagnosis of FG syndrome (MED12, UPF3B genes)
Institut für Humangenetik am Universitätsklinikum Freiburg
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

ITALY
VENETO
PADOVA
Molecular diagnosis of intellectual disability syndromes [panel of genes]
Research&Innovation S.r.l. (R&I 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
Technique(s)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

ITALY
CAMPANIA
NAPOLI
Molecular diagnosis of FG syndrome (CASK gene)
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ITALY
CAMPANIA
NAPOLI
Molecular diagnosis of FG syndrome (MED12 gene)
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ITALY
EMILIA ROMAGNA
BOLOGNA