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Caption : Accreditation =Accreditation
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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Blackfan-Diamond Syndrome (RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24 and RPS26 gene)
VUmc - VU medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of thrombocytopenias (ADAMTS13, GATA1, GP1BA, GP1BB, GP9, MASTL, MYH9, RUNX1, WAS genes: NGS Screening Panel)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Molecular Diagnosis of Diamond-Blackfan anaemia (RPS19 gene sequencing)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of Blackfan-Diamond anemia (RPS19, RPL5, RPL35A, RPL11, RPS26, RPS10, RPS24, RPS17, RPS7, GATA1 genes)
Reference Laboratory Genetics
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

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Blackfan-Diamond anemia (RPL5, RPL11, RPS24, RPL35A, RPS10, RPS17, RPS19, RPS26 genes)
Pränatalmedizin München
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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of hemorrhagic disorders due to a constitutional platelet anomaly (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
Technique(s) : NGS sequencing (except WES)

GERMANY

Baden-Württemberg
ULM

Accreditation
Molecular diagnosis of Blackfan-Diamond anemia (RPS19, RPS24 genes)
DRK Baden-Württemberg/ Hessen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

PORTUGAL

CENTRO
COIMBRA

Molecular diagnosis of Blackfan-Diamond anemia (RPS19, RPS24, RPL5, RPL11, RPL35A, RPS10, RPS17 and RPS26 genes): sequencing of the entire coding region
Hosp. Pediátrico e Hosp. Covőes - Centro Hospitalar e Universitário de Coimbra
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

ITALY

LAZIO
ROMA

Molecular diagnosis of anemia congenital hypoplastic, Blackfan-Diamond type (RPS19 gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Diagnosis of Blackfan-Diamond disease (RPS19, RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17, RPS7 genes)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Blackfan-Diamond anemia (RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26 genes / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Blackfan-Diamond anemia (RPS24, RPL35A, RPL11 genes: 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
ELCHE

Diagnosis of Blackfan-Diamond anemia (GATA1, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7 genes)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of predisposition to hemopathies (Panel)
CHU Paris - Hôpital Robert Debré
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)

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Blackfan-Diamond anemia (genes: RPL5/11/15/26/27/31/35A; RPS7/10/17/19/24/26/27/28/29; GATA1; TSR2)
medgen.at GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, Whole Exome Sequencing (WES)

GERMANY

Baden-Württemberg
FREIBURG

Molecular diagnosis of Blackfan-Diamond anemia (RPS19 gene)
Zentrum für Kinder- und Jugendmedizin Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
ULM

Molecular diagnosis of Blackfan-Diamond anemia (RPL5, RPS19 genes)
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of Blackfan-Diamond disease (RPS19, RPS24, RPS17, RPS26, RPS10, RPL5, RPL11, RPL 35A gene sequencing)
Schneider Children's Medical Center of Israel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of Blackfan-Diamond disease (RPS19 gene)
Azienda Ospedaliera Universitaria - Seconda Universitŕ degli Studi di Napoli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Blackfan-Diamond disease (RPS19, RPL5, RPL11, RPL35A, RPS24, RPS17, RPS26, RPS10, RPS7, GATA1, RPL26 genes)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Madrid
MAJADAHONDA

POLAND

Lodz
LODZ

Molecular diagnosis of Blackfan-Diamond disease (RPL5 gene: sequencing)
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of Blackfan-Diamond anemia (Panel)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, Array based techniques