Uniparental Disomy (UPD) Proband, DNA Analysis

Casandra

Casandra Test Code LC11629Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 470074

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

Order Test

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

This test code is reserved for proband testing of imprinted chromosomes only (6, 7, 11, 14, 15, 20). For non-imprinted chromosome testing, contact the Cytogenetics laboratory genetic coordinator before sample collection and submission. Both parental samples must be submitted in addition to the proband sample. A separate test request form is required for each family member's specimen submission. Ensure the patient's name, age, and clinical and family history are included on the request form. Specify the chromosome pair to be studied. Cell culturing may require an additional 7-12 days and incur extra fees.

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