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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
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

Accreditation
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

Accreditation
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

Accreditation
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

Accreditation
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

Accreditation
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

Accreditation
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

Accreditation
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

Accreditation
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

Accreditation
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

Accreditation
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

Accreditation
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

Accreditation
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

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