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Diagnosis of Blackfan-Diamond anemia (GATA1, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7 genes)
Despite our efforts to ensure that data is up to date, this activity has not been validated since 23/06/2016- Bioarray
- Bioarray
- Parque Científico y Empresarial de la UMH - Edificio Quorum III
- 03202 ELCHE
- SPAIN
- Director of laboratory : Mr Luis Antonio ALCARAZ MAS
- More information
Last update: June 2016
Responsible of diagnostic test
Purpose(s)
Post-natal diagnosis
Technical procedure(s)
Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques
List of diseases and genes
List of diseases tested
(1)
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