18q21.2 microdeletion syndrome-Pitt-Hopkins syndrome

Pitt-Hopkins Syndrome (PHS) is a relatively rare syndrome, associated with severe growth and mental retardation, absence of verbal communication skills, hypotonia and several dysmorphic features. It is caused by a microdeletion of ~0,5 Mb in size at the 18q21.2 region, which encompasses the causative TCF4 gene.

We perform an MLPA technique, employing multiple probes recognizing specific DNA sequences in the region of interest, enabling us to detect deletions 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.