Uniparental Disomy (UPD) Proband, DNA Analysis

Also known as: Angelman syndrome UPD analysis; Prader-Willi syndrome UPD analysis; Beckwith-Wiedemann syndrome UPD analysis; Russell-Silver syndrome UPD analysis; Chromosome 14 UPD analysis; Chromosome 15 UPD analysis; Chromosome 7 UPD analysis; Chromosome 11 UPD analysis

Clinical Use

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Use

Establish the parent of origin for syndromes that may result from single-parent inheritance of both homologues of a specific chromosome pair containing imprinted genetic loci. The best examples of this are Prader-Willi and Angelman syndromes in which maternal and paternal uniparental disomy (for chromosome 15), respectively, are reported. Other examples include Russell-Silver syndrome (chromosome 7) and Beckwith-Wiedemann syndrome (chromosome 11).

Special Instructions

Not provided.

Limitations

Potential false-positive or false-negative results may arise due to factors like blood transfusions, bone marrow transplants, incorrect family relationship representations, or fetal sample contamination with maternal cells. The test was developed by LabCorp, and its performance characteristics were determined internally. It has not been cleared or approved by the FDA.

Test Details