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GTR Home > Tests > Leukodystrophy hypomyelinating type 8 (sequence analysis of POLR3B gene)

Laboratory contact

Laboratory information

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CGC Genetics
Unilabs

Laboratory director(s)

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  • Rita Cerqueira, BSc, Lab Director

Laboratory contact

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  • Rua Manuel Pinto de Azevedo, 173
  • Porto, Porto 4100-321
  • Portugal

Laboratory services offered

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Prenatal Testing
  • Custom Sequence Analysis
  • Cytogenetics
  • Genetic counseling
  • Oncogenetics
  • Pharmaceutical Clinical trials
  • Pharmacogenomics
  • Whole Exome Sequencing
  • Whole Genome Sequencing

Laboratory participation in external programs

ISCA Consortium (International Standards for Cytogenomic Arrays)

Laboratory credentials

CLIA certification

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  • Number: 99D1066287, Expiration: 2024-10-31

Certifications

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  • EMQN, Number: n.a., Effective: 2023-01-01, Non-expiring
  • ISO15189, Number: E0020, Effective: 2024-07-27, Non-expiring
  • International Organization for Standardization 9001: 2015, ISO 9, Number: certificate PT007758, Expiration: 2025-10-12

Clinical resources

Practice guidelines

  • AAP, 2013
    Ethical and Policy Issues in Genetic Testing and Screening of Children, Pediatrics (2013) 131 (3): 620–622.

Consumer resources

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.