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Interpretive Handbook

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Test 89858 :
Array Comparative Genomic Hybridization (aCGH) Parental Testing, FISH

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Array comparative genomic hybridization (aCGH) is a method for detecting copy number changes (gains or losses) across the entire genome. When copy number changes are identified in a patient, parental studies are sometimes necessary to assess their clinical significance. Changes that are inherited from clinically normal parents are less likely to be clinically significant in the patient and de novo changes are more likely to be pathogenic.  

 

To identify familial copy number changes in parents of previously tested patients, (FISH) testing is utilized. The parental results will provide the context for interpretation of the patient's aCGH results.

Useful For Suggests clinical disorders or settings where the test may be helpful

Determining the inheritance pattern of copy number changes previously identified by aCGH analysis in a patient and aiding in the clinical interpretation of the pathogenicity of the copy number change.

Interpretation Provides information to assist in interpretation of the test results

An interpretive report will be provided.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test is only used to confirm the presence of a specific copy number change in a family member after it has been identified by aCGH testing in a patient (see CGH / Array Comparative Genomic Hybridization (aCGH), Whole Genome, Constitutional).

 

The results of this test may be of uncertain clinical significance.

 

If the copy number change identified in a patient is below the level of resolution of FISH analysis, aCGH studies will be required. In this circumstance, this test will be cancelled and CGH / Array Comparative Genomic Hybridization (aCGH), Whole Genome, Constitutional will be performed.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Clinical References Provides recommendations for further in-depth reading of a clinical nature

1. Shaffer LG, Kashork CD, Saleki R, et al: Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006 Jul;149(1):98-102

2. Baldwin EL, Lee JY, Blake DM, et al: Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet Med 2008 May;10:415-429


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