Uniparental Disomy (UPD) Parent, DNA Analysis

TEST: 470115
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Synonyms

  • 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

Special Instructions

This test code is reserved for testing of parental control samples that are used to help interpret UPD testing of a proband for imprinted chromosomes only (6, 7, 11, 14, 15, 20). If non-imprinted chromosome testing is desired, please contact our Cytogenetics laboratory genetic coordinator group prior to collecting and submitting a sample (800-345-4363). A separate test code [470074] is used for proband samples. A separate test request form must be completed for each family member for whom a specimen is submitted. Blood specimens from both parents should be submitted using the parental UPD test code. The patient's name, age, and relevant clinical and family history should be included on the corresponding test request form. Please include chromosome pair to be studied.

Expected Turnaround Time

13 - 18 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Whole blood

Volume

7 mL whole blood

Minimum Volume

3 mL whole blood

Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube

Storage Instructions

Maintain specimen at room temperature. Do not freeze.

Causes for Rejection

Frozen specimen; hemolysis; improper container; insufficient sample volume

Test Details

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).

Limitations

False-positive or false-negative results may occur for reasons that include blood transfusions, bone marrow transplantattion, erroneous representation of family relationships, or contamination of a fetal sample with maternal cells.

This test was developed, and its perfomance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Methodology

Analysis of chromosomal Variable Number Tandem Repeats (VNTRs) and Amplified Fragment Length Polymorphisms (AMPFLPs) by polymerase chain reaction and DNA fragment sizing.

References

Schaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB. American College of Medical Genetics statement of diagnostic testing for uniparental disomy. Genet Med. 2001 May-Jun;3(3):206-211.11388763

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
470115 UPD DNA Analysis Parent Pending 470111 Interpretation 36917-3
470115 UPD DNA Analysis Parent Pending 470113 Extraction 8100-0
470115 UPD DNA Analysis Parent Pending 512123 PDF 51967-8

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