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GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of COL2A1 gene-associated diseases
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

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of COL2A1 gene-associated diseases
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

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of COL2A1 gene-associated diseases
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
AARGAU

Accreditation
Molecular diagnosis of Kniest dysplasia / spondyloepiphyseal dysplasia (COL2A1 gene sequencing and deletion analysis)
Kantonsspital Aargau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular diagnosis of COL2A1 gene-associated diseases (COL2A1 gene)
University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of skeletal dysplasia (APEX and sequencing: FGFR3, FGFR2, COL2A1, SLC26A2, ALPL, ROR2, ESCO2, CHST3 and SOX9 genes)
Asper Biotech Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of COL2A1 gene-associated diseases
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

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of COL2A1 gene-associated diseases
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of COL2A1 gene-associated diseases
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of retarted growth (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
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

Bayern
NÜRNBERG

Molecular diagnosis of COL2A1 gene-associated diseases (Stickler syndrome type 1, spondyloepiphyseal dysplasia, Kniest dysplasia and others)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
ERLANGEN

Molecular diagnosis of COL2A1 gene-associated diseases
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of COL2A1 gene-associated diseases (Stickler syndrome type 1, spondyloepiphyseal dysplasia, Kniest dysplasia and others)
Gemeinschaftspraxis für Humangenetik
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 spondyloperipheral dysplasia - short ulna (COL2A1 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of COL2A1 gene-associated diseases
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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)