7q36.1 microdeletion syndrome

Genomic deletions, encompassing the CNTNAP2 gene in the broader 7q36.1 chromosomal region, are often observed in patients with autism and/or schizophrenia. It is postulated that disruption or decreased expression of this particular gene leads to severe brain and nervous system defects.

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.