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

Overview

Test order codeHelp: 2516

Test name

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

Purpose of the test

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

Condition

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How to order

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Not provided

Specimen source

Peripheral (whole) blood

Methodology

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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

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Clinical utility

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Establish or confirm diagnosis

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

Clinical validity

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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

  • NSGC, 2021
    National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening

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.