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GTR Home > Tests > NeurodevelopmentNext-Expanded™

Methodology

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Test development

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Test developed by laboratory (no manufacturer test name)

Confirmation of results

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Single nucleotide variant calls not satisfying 40x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.

Genes

Clinical resources

Practice guidelines

  • ACMG, 2016
    Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
  • ASHG/ACMG, 2015
    Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
  • ACMG, 2015
    Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics.
  • ACMG, 2015
    Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

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.