Quantitative PCR (also called Q-PCR or Real-Time Quantitative PCR) is a technique that amplifies a specific genomic region by monitoring in real time every step of the amplification reaction.
This technique is used to establish the number of copies of a particular DNA segment. It allows us to identify deletions or duplications in a specific genomic region.
The quantitative PCR can be used for:
- to confirm the identification of a genomic imbalance previously detected by molecular karyotyping
- to be used as an alternative to the array-CGH analysis to perform studies of familiar segregations of a specific genomic imbalance previously detected on the proband
The familiar segregation (on partens, brothers or sisters, grandparents etc.) allows to test if the change in the number of copies is inherited or de novo. Establishing the source of genomic alterations is important to define the pathogenetic significance and to determine more accurately the risk of recurrence of disease associated with a chromosomal abnormality.
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