Use

The Uniparental Disomy test is used for evaluating patients with a personal or family history of Robertsonian chromosomal translocations. It is also applied to patients presenting features of disorders known to be associated with uniparental disomy. In addition, this test serves as a follow-up for chromosomal microarray results that indicate regions of homozygosity or absence of heterozygosity. It aids in evaluating the disease mechanism in individuals with rare autosomal recessive diseases who have only one carrier parent.