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Uniparental Disomy (UPD) Proband, DNA Analysis

CPT Call client services.
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

Test Details

Methodology

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

Result Turnaround Time

12 - 16 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.

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). 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). Parental samples must be submitted in addition to the proband sample. A separate test code is used for parental 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 [470115]. 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. If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.

Limitations

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

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

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

Specimen Requirements

Specimen

Whole blood, amniotic fluid, chorionic villus sample (CVS). For fetal specimen, submission of maternal blood is required to rule out maternal cell contamination and aid in fetal test interpretation. Maternal blood sample should be ordered for Maternal Cell Contamination [511402] on a separate test request form.

Volume

7 mL whole blood; 10 mL amniotic fluid; 2 flasks of amniocyte culture; or 20 mg of CVS tissue

Minimum Volume

3 mL whole blood; 5 mL amniotic fluid; 10 mg of CVS tissue

Container

Lavender-top (EDTA) tube; yellow-top (ACD) tube; sterile plastic conical tube or two confluent T-25 flasks for fetal testing

Storage Instructions

Maintain specimen at room temperature. Do not freeze.

Causes for Rejection

Frozen specimen; hemolysis; improper container; insufficient sample volume

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
470074 UPD DNA Analysis Proband 75394-7 470068 Interpretation 75394-7
470074 UPD DNA Analysis Proband 75394-7 470069 Extraction 8100-0
470074 UPD DNA Analysis Proband 75394-7 470072 Director Review 69426-5
470074 UPD DNA Analysis Proband 75394-7 512123 PDF 11502-2
Order Code470074
Order Code NameUPD DNA Analysis Proband
Order Loinc75394-7
Result Code470068
Result Code NameInterpretation
UofM
Result LOINC75394-7
Order Code470074
Order Code NameUPD DNA Analysis Proband
Order Loinc75394-7
Result Code470069
Result Code NameExtraction
UofM
Result LOINC8100-0
Order Code470074
Order Code NameUPD DNA Analysis Proband
Order Loinc75394-7
Result Code470072
Result Code NameDirector Review
UofM
Result LOINC69426-5
Order Code470074
Order Code NameUPD DNA Analysis Proband
Order Loinc75394-7
Result Code512123
Result Code NamePDF
UofM
Result LOINC11502-2