U.S. flag

An official website of the United States government

GTR Home > Tests > Comparative genomic hybridization (aCGH-SNP)

Overview

Test order codeHelp: 2516

Test name

Help

Comparative genomic hybridization (aCGH-SNP) (aCGH-SNP)

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

Help

Click Indication tab for more information.

How to order

Help

Not provided

Specimen source

Peripheral (whole) blood

Methodology

Help
Molecular Genetics
DDeletion/duplication analysis
Comparative Genomic Hybridization
  • Agilent SurePrint G3 Human CGH Microarray 4x180K
HDetection of homozygosity
Comparative Genomic Hybridization
  • Agilent SurePrint G3 Human CGH Microarray 4x180K
UUniparental disomy study (UPD)
Comparative Genomic Hybridization
  • Agilent SurePrint G3 Human CGH Microarray 4x180K

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

Help

Establish or confirm diagnosis

Citations
  • Application of array-based comparative genomic hybridization to clinical diagnostics. - PubMed ID: 17065418

Clinical validity

Help

The microarray used allows to detect in more than 99% of cases alterations of size >200 kb and loss of heterozygosity >10 Mb.

Citations

Not provided

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.