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Array Comparative Genome Hybridization Cheek Swab Test

Last updated Sept. 11, 2018

Approved by: Krish Tangella MD, MBA, FCAP

The Array Comparative Genome Hybridization Cheek Swab Test detects differences in copy number in an individual’s genome. The test is used to diagnose genetic disorders.


What are other Names for this Test? (Equivalent Terms)

  • aCGH Blood Test
  • Genomic Microarray Analysis Blood Test

What is Array Comparative Genome Hybridization Cheek Swab Test? (Background Information)

  • A genomic array is a tool used to analyze the DNA blueprint, or genome, of an individual. It precisely detects genome abnormalities
  • Most cells in the body contain two copies of the genome. These cells are called diploid cells. Sex cells, including sperm and eggs, contain only one copy of the genome. They are called haploid
  • The Array Comparative Genome Hybridization Cheek Swab Test works by subjecting an individual’s DNA blueprint to a microarray containing probes. The probes individually recognize small portions of the individual’s genome
  • As each probe recognizes its given portion of the individual’s genome, it hybridizes, or binds, to the DNA portion. This is measured by the device
  • In this way, genetic abnormalities may be detected. For example, if portions of the individual’s genome are mutated, they will not hybridize to their respective probe in the microarray
  • Mutations include alterations of small sections of DNA, insertions or deletions of large sections of DNA, and repetitions of a section of DNA
  • The Array Comparative Genome Hybridization Cheek Swab Test detects differences in copy number in an individual’s genome. The test is used to diagnose genetic disorders

What are the Clinical Indications for performing the Array Comparative Genome Hybridization Cheek Swab Test?

Following are the clinical indications for performing the Array Comparative Genome Hybridization Cheek Swab Test:

  • Family history of genetic disorders
  • Prenatal screening
  • Developmental problems

How is the Specimen Collected for Array Comparative Genome Hybridization Cheek Swab Test?

Following is the specimen collection process for Array Comparative Genome Hybridization Cheek Swab Test:

Sample required: Cheek swab

Process: Scraping the inside of the cheek with a Q-tip shaped device.

Preparation required: No special preparation is needed prior to the test.

What is the Significance of the Array Comparative Genome Hybridization Cheek Swab Test Result?

  • A copy number of less than or greater than 2 may indicate that a genetic abnormality is present

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • Genetic mutations do not always result in a disease or disorder
  • Genetic arrays are currently under development that detect and differentiate among different cancers

Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider of the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid unnecessary chances of a misdiagnosis.

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Jan. 26, 2016
Last updated: Sept. 11, 2018