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GTR Home > Tests > Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946, X-linked recessive; DBA14 (Blackfan-Diamond anemia) (TSR2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Laboratory contact

Laboratory information

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Intergen, INTERGEN, Intergen
Intergen Genetics and Rare Diseases Diagnosis Center

Laboratory director(s)

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  • G├╝lay Ceylaner, PhD, MD, Lab Director
  • Serdar Ceylaner, MD, Lab Director

Laboratory contact

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  • Mustafa Kemal Mh 2119 sk No:5
  • Ankara, Ankara 06510
  • Turkey

Laboratory services offered

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Balanced Chromosome Rearrangement Studies
  • Custom Deletion/Duplication Testing
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing
  • Cytogenetic testing
  • Genetic counseling
  • Identity Testing
  • Marker Chromosome Identification
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Preimplantation Genetic Diagnosis (PGD)
  • Rare disease clinical evaluation
  • Rare disease custom testing
  • Result interpretation
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing
  • Whole Genome Sequencing

Laboratory credentials

Certifications

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  • EMQN, Number: 0595, Expiration: 2008-09-28
  • Turkish Ministry of Heath Cytogenetics License, Number: 11379, Expiration: 2010-03-18
  • Turkish Ministry of Heath Molecular Genetics License, Number: 11379, Expiration: 2010-03-18
  • CEQAS, Number: 0595, Expiration: 2021-05-31

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