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                                                                  Laboratory officially designated for this diagnostic test =Laboratory officially designated for this diagnostic test            Accreditation =Accreditation ;

NETHERLANDS

Noord-Holland
AMSTERDAM

Diagnosis of Blackfan-Diamond Syndrome (ADA2, GATA1, RPL5, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPS7, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29 and TSR2 gene)
Amsterdam UMC, locatie VUmc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region sanger sequencing

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Accreditation
GERMANY

Bayern
MÜNCHEN

Diagnosis of Blackfan-Diamond anemia (RPL5, RPL11, RPS24, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS26 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques

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Accreditation
NETHERLANDS

Noord-Holland
AMSTERDAM

Diagnosis of Blackfan-Diamond Anemia (RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19 and RPS24 gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region sanger sequencing, mlpa based techniques

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Accreditation
GERMANY

Baden-Württemberg
ULM

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

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Accreditation
SPAIN

Andalucía
MÁLAGA

Diagnosis of Blackfan-Diamond disease (RPS19, RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17, RPS7 genes)
Health in Code. Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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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
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis ngs sequencing (except wes), mlpa based techniques

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PORTUGAL

NORTE
PORTO

Diagnosis of Blackfan-Diamond anemia (RPS24, RPL35A, RPS7, RPL11 and RPS26 genes)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

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