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CGH Microarray Analysis


Comparative genomic hybridization (CGH) or Chromosomal Microarray Analysis (CMA) is a recent technology development that allows for an entire genome to be analyzed in more detail than is possible using conventional cytogenetics. Conventional Cytogenetics can detect changes in the amount of DNA >5Mb. Convential Molecular genetic techniques allow us to detect changes of as little as one base pair of the DNA sequence, however the target area or gene has to be identified in advance to make this possible. Microarrays combine the assets of both conventional molecular and cytogenetics to allow a whole genome screen to be performed but with the ability to detect changes smaller than 5Mb. This allows for the exact boundaries of microduplications and/or microdeletions to be detected. In turn, the specific genes in these segments can be identified, which may be of clinical significance.

DNA from the test sample and a control sample are labeled with fluorescent dyes and hybridized to the oligos. Results are analyzed using quantitative imaging methods and analytical software is used to assist in identifying each targeted-DNA sequence as loss of copy number, gain of copy number, or normal copy number. This technology has been validated on patients with known microdeletions/duplications and other unbalanced karyotypes detected by traditional cytogenetic methods. CMA will not detect low level mosaicism, balanced translocations, or inversions.

CMA may be ordered for anyone with dysmorphic features, unexplained mental retardation/developmental delay, congenital anomalies not specific to a genetic syndrome, seizures, speech delay, multiple miscarriages, tumor analysis to aid in diagnosis, and any patient with normal chromosome analysis.

Methodology: Comparative Genomic Hybridization analysis 400k probes

Purpose: Confirmation of Clinical Diagnosis

Test Requisition: Molecular Requisition-Refer to diagnosis list on page 2 before ordering

CPT Code: 81228 Cost: $1905.00

Turn-around-time: 28 days

Specimen Requirements

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1. Kallioniemi A, Kallioniemi OP, Sudar Da, Rutovitz D, Gray JW, Waldman F, Pinkel D (1992) "Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors". Science 258:818-821.

2. Weiss M, Hermsen M, Meijer G, Van Grieken N, Baak J, Kuipers E, Van Diest P (1999) "Comparative genomic hybridization". Molecular Pathology 52:243-251.

3. Pinkel D, Albertson DG (2005) Comparative genomic hybridization. Annu Rev Genomics Hum Genet 6:331-354.

4. de Ravel TJ, Devriendt K, Fryns J-P, Vermeesch JR (2007) What’s new in karyotyping? The move towards array comparative genomic hybridization (CGH)". European journal of pediatrics 166:637-643.



Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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