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Caption : Accreditation =Accreditation ;

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of UV-sensitive syndrome type 1, 2 (ERCC6, ERCC8 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of UV-sensitive syndrome type 1, 2 (ERCC6, ERCC8 genes)
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

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of UV-sensitive syndrome type 1, 2 (ERCC6, ERCC8 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

GRAND-EST
STRASBOURG

Accreditation Diagnosis of Cockayne syndrome and related (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of DNA repair abnormalities including Xeroderma pigmentosum, trichothiodystrophy and hereditary poikiloderma (Panel)
CHU de Bordeaux-GH Pellegrin
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)

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation Diagnosis of premature aging and laminopathies (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, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of skin diseases (NGS screening panel, 253 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of monogenic diabetes (Panel)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Targeted mutation analysis, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of rare genetic skin diseases (gene panel)
Cliniques Universitaires de Bruxelles - Hôpital Erasme
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Sachsen
DRESDEN

Diagnosis of UV-sensitive syndrome type 2 (ERCC8 gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of UV-sensitive syndrome type 1, 2 (ERCC6, ERCC8 genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of UV-sensitive syndrome type 1, 2 (ERCC6, ERCC8 genes)
Praxis für Humangenetik und Prävention
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Molecular and functional diagnosis of UV-Sensitivity Syndrome (ERCC6, ERCC8 and UVSSA gene)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay, Protein expression
Technique(s) : Sanger sequencing, Immunohistochemistry, Western Blot

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of UV-sensitive syndrome (ERCC6 and ERCC8 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Diagnosis of DNA Repair Disorders
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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PORTUGAL

NORTE
PORTO

Diagnosis of UV-sensitive syndrome type 3 (UVSSA gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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