Description

The price is per 3 samples (also of the patient’s parents). The term uniparental disomy (UPD) defines the inheritance of two homologous chromosomes from a single parent; it is mainly caused by non-disjunction events, followed by correction mechanisms of trisomies or monosomies. The majority of cases appear to be associated with maternal age and may initially be identified as a mosaic trisomy during prenatal diagnosis, both in the case of chorionic villus sampling and in the case of amniotic fluid sample. Furthermore, structural abnormalities, such as Robertsonian translocations and supernumerary marker chromosomes, appear to be associated with an increased risk of UPD.

External Information

Click here for more information about the Autosomal Uniparental Disomy, UPD (Family test, contact the laboratory before requesting) for chromosomes 7, 11, 14, 15 e 22. (Syndromes: Prader-Willi, Angelman, Beckwith-Wiedeman, Silver-Russell) genetic test.