GTR Home > Tests > High-Resolution Rapid Microarray (CGH and SNP)

Interpretation

Sample Negative Report

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Sample Positive Report

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Variants Of Unknown Significance (VUS) Policy And Interpretation

What is the protocol for interpreting a variation as a VUS? Help
Copy number variants detected by microarray analysis are investigated to determine gene content, gene number, size of alteration, publications involving similar deletions and duplications, and whether similar copy gains and losses are present in existing databases. Genes are further evaluated for function, known mutations, evidence of haploinsufficiency and animal models. Comprehensive assessment of currently available information is utilized to determine the significance of the alterations. Please contact Allele Diagnostics for more information or to address additional questions.
What software is used to interpret novel variations? Help
Review of internal and external databases of previously identified genomic variants.
Are family members with defined clinical status recruited to assess significance of VUS without charge?Help
Not provided

Research

Is research allowed on the sample after clinical testing is complete?Help
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Practice guidelines

  • ACMG, 2021
    Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
  • NSGC, 2021
    National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening
  • ACMG, 2016
    Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
  • ESHG/ASHG, 2015
    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
  • NSGC, 2013
    Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. (Replaced by NSCG, 2021 Statement)
  • ACMG, 2013
    ACMG statement on noninvasive prenatal screening for fetal aneuploidy. (See 2016 Update)
  • ICFMM, 2013
    Position Statement from the Italian College of Fetal Maternal Medicine: Non-invasive prenatal testing (NIPT) by maternal plasma DNA sequencing.
  • NSGC, 2013
    NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.

Consumer resources

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