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

Methodology

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Comparative Genomic Hybridization
HDetection of homozygosity
SNP Detection

Test comments

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For more information about this test, please see the description at https://www.allelediagnostics.com/services/tests/4/high-resolution-rapid-microarray-cgh-and-snp/

Test development

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Test developed by laboratory (no manufacturer test name)

Test procedure

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FISH confirmation/visualization of the majority of copy number abnormalities. If submitting a specimen that cannot be cultured, such as frozen tissue or extracted DNA, a secondary specimen may be recommended for follow-up by FISH visualization (at no extra charge). Molecular studies may be recommended depending on specific test results.

Citations

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Confirmation of results

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FISH confirmation/visualization of the majority of copy number abnormalities. If submitting a specimen that cannot be cultured, such as frozen tissue or extracted DNA, a secondary specimen may be recommended for follow-up by FISH visualization (at no extra charge). Molecular studies may be recommended depending on specific test results.

Genes

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

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.