Cri-Du-Chat/SOTOS Combination LPU013

Cri-Du-Chat (CDC) syndrome consists of multiple development anomalies, mental retardation, microcephaly, abnormal face, and a mewing cry in infants. It is estimated that the prevalence varies between 1 in 20,000 to 1 in 50,000 births. It is associated with deletions of part of the short arm of chromosome 5 which vary in size so Cytocell has developed a two colour strategy for the full characterization of deletions.

SOTOS syndrome is a neurological disorder characterised by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development. Haploinsufficiency of the NSD1 gene product, caused by disruption of the gene has been shown to be the major cause of SOTOS.

To provide a control probe for both Cri-Du-Chat and SOTOS probes and to add value for the customer. The CDC probe mix acts as a control for SOTOS analysis and vice versa, providing two probes in one test, negating the need to keep two tubes of these relatively rare disorders in stock in customer's laboratories.