Uniparental Disomy (UPD) Parent, 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 bot 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), respctively, are reported. Other examples include Russell-Silver syndrome (chromosome 7) and Beckwith-Wiedemann syndrome (chromosome 11).

Special Instructions

Not provided.

Limitations

False-positive or negative results may occur due to factors like blood transfusions, bone marrow transplantation, erroneous representation of family relationships, or contamination of a fetal sample with maternal cells. The test's performance characteristics were determined by LabCorp and it is not cleared or approved by the FDA.

Test Details