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GTR Home > Tests > NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

Laboratory contact

Laboratory information

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Amsterdam UMC Genome Diagnostics, AGDx
Amsterdam University Medical Center, Location AMC

Laboratory director(s)

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  • Erik Sistermans, PhD, Lab Director

Laboratory contact

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  • Human Genetics
  • Meibergdreef 9
  • Amsterdam, Noord-Holland 1105 AZ
  • Netherlands

Laboratory affiliations

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Laboratory services offered

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Prenatal Testing
  • Custom Sequence Analysis
  • Custom mutation-specific/Carrier testing
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Uniparental Disomy (UPD) Testing

Laboratory participation in external programs

Mutation-specific Databases

Laboratory credentials

Certifications

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  • ISO15189, Number: Dutch Accreditation Council, M174, Expiration: 2023-12-01

Practice guidelines

  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Decreased Citrulline, 2022
  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased Citrulline, 2022
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Carbamoyl Phosphate Synthetase I (CPS I) Deficiency, 2012

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