Uniparental Disomy (UPD) Parent, DNA Analysis

Casandra

Casandra Test Code LC96452Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 470115

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

This test code is reserved for testing parental control samples to help interpret UPD testing of a proband for imprinted chromosomes only (6, 7, 11, 14, 15, 20). Contact the Cytogenetics laboratory genetic coordinator group for non-imprinted chromosome testing. A separate test code [470074] is used for proband samples. Use a separate test request form for each family member. Blood specimens from both parents should be submitted using the parental UPD test code. Include patient's name, age, and relevant clinical and family history on the test request form.

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