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GTR Home > Tests > Schinzel-Giedion Syndrome , Sequencing SETBP1 Gene

Laboratory contact

Laboratory information

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Reference Laboratory Genetics, RefLab Genetics

Laboratory director(s)

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  • Jaime Torrents, PhD, Administrator

Laboratory contact

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  • Pablo Iglesias, 57
  • Hospitalet de Llobregat, Catalonia 08908
  • Spain

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 Sequence Analysis
  • Custom microarray analysis
  • Custom mutation-specific/Carrier testing
  • Data Storage and Backup
  • Genetic counseling
  • Identity Testing
  • Marker Chromosome Identification
  • Mutation Confirmation
  • Result interpretation
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing
  • Whole Genome Sequencing

Laboratory participation in external programs

Other

Laboratory credentials

Certifications

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  • ISO 14001:2004, Number: ES-2001/0146, Expiration: 2018-09-14
  • ISO 9001:2008, Number: ES-1087/1998, Expiration: 2018-09-14
  • ISO15189, Number: 1065/LE2112, Expiration: 2018-12-31

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.