"Gains and Losses" in Clinical Genetic Testing: Comparative Genomic Hybridization Microarray Technologies Lead the Way (LabQ 2013)
Author(s):
Brian A Gray, CG(ASCP)CMDLMCM
Description:
Intended Audience: Clinical Scientists, Laboratory Technologist/Scientist (Includes all sub-specialty areas), Students, Pathologist Assistants, Laboratory Directors and Educators.
Upon completion of this activity, you will be able to:
- state the principal concepts of the comparative genomic hybridization microarray (aCGH) technique and the typical targets used to detect genetic causes of human disease.
- list the basic types of genomic changes detectable by aCGH methods.
- describe the significance of different classes of copy number variants (CNVs).
- know the limitations of CNV detection by aCGH testing with respect to the identification of genetic causes of human disease.
- identify appropriate ancillary genetic testing modalities required to characterize specific mechanisms of CNVs identified by aCGH methods, to be used for patient management and family genetic counseling.
