Search for a diagnostic test
21 Result(s)
Caption
: Accreditation
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GERMANY
Baden-Württemberg
TÜBINGEN
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

GERMANY
Rheinland-Pfalz
INGELHEIM AM RHEIN
Diagnosis of FLNA gene associated filaminopathies
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

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

GERMANY
Bayern
MARTINSRIED/PLANEGG
Diagnosis of FLNA gene associated filaminopathies
MVZ Martinsried GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GERMANY
Bayern
MÜNCHEN
Diagnosis of FLNA gene associated filaminopathies
Pränatal-Medizin München MVZ GmbH
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
Diagnosis of FG syndrome phenotypic spectrum (BRWD3, CASK, FLNA, UPF3B genes)
Pränatal-Medizin München MVZ GmbH
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)

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)

FRANCE
CENTRE-VAL DE LOIRE
TOURS
Diagnosis of intellectual disability (Panel ID286)
CHRU de Tours - Hôpital Bretonneau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

FRANCE
AUVERGNE-RHONE-ALPES
BRON
Diagnosis of intellectual disability (Panel)
CHU de Lyon HCL - GH Est
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

FRANCE
GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of intellectual disability and/or epilepsy (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (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
STUTTGART
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
Diagnosis of FG syndrome (UPF3B, MED12 gene)
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
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)

GERMANY
Hessen
FRANKFURT AM MAIN
Diagnosis of FLNA gene associated filaminopathies
Senckenberg Zentrum für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

ITALY
CAMPANIA
NAPOLI
Molecular diagnosis of FG syndrome (CASK gene)
AOU Università degli Studi della Campania "Luigi Vanvitelli"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ITALY
CAMPANIA
NAPOLI
Molecular diagnosis of FG syndrome (MED12 gene)
AOU Università degli Studi della Campania "Luigi Vanvitelli"
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ITALY
EMILIA ROMAGNA
BOLOGNA
Molecular diagnosis of Opitz-Kaveggia and Lujan-Frins syndromes (MED12 gene)
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

PORTUGAL
NORTE
PORTO