Introduction to Genetic Technology

New Diagnostic Technologies:

Comparative Genomic Hybridization (Array CGH)

Whole genome analysis of quantitative changes in chromosomes by microarrays. Any quantitative change including deletions, duplications and unbalanced chromosomal rearrangements can be observed. Offers several advantages over traditional cytogenetics including analysis of events too small to be seen under the microscope and comprehensive coverage of all of the known microdeletion syndromes in a single analysis.

The principle limitation of CGH vs. cytogenetics is the fact that CGH cannot detect balanced translocations. There are also limitations on detection of mosaicism.

Quantitative RT-PCR

  Technique for measuring the quantity of DNA or RNA in a specimen. Used as a specific quantitative analysis of gene function.

Multiplex PCR

  A platform (usually beads) that allows the analysis of many mutations and/or polymorphism in a single test. Currently, commercial systems can handle up to about 500 alleles.

Expression Microarrays

  A method of quantization of mRNA production (gene activity) of the entire genome in a single analysis. A this time, this technique is still only a research tool.

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