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.
Studies of familiar segregations (parents, brothers or sisters, grandparents etc.) allow to test if the change in the number of copies is inherited or de novo.
Microgenomics Laboratory uses the technique Quantitative PCR (also called Q-PCR or Real-Time Quantitative PCR) to amplifies a specific genomic region, previously detected on proband by molecular karyotyping, by monitoring in real time every step of the amplification reaction.
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