17q12 microdeletion syndrome

Microdeletions as well as duplications of ~1,5Mb in size, at the 17q12 chromosomal region, have been detected in patients with a variety of abnormal characteristics, such as dysplastic and polycystic kidneys, Maturity Onset Diabetes of the Young 5 (MODY5), seizures and mental retardation. The presence of a microdeletion or a duplication leads to different phenotypic traits.

We perform an MLPA technique, employing multiple probes recognizing specific DNA sequences in the region of interest, enabling us to detect deletions or duplications of specific sequences known to be responsible for >99% of all cases.

This technique is superior to FISH, due to its enhanced analytical sensitivity and reliability.