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For hours, walk-ins and appointments.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
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.
Expected 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.
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
Test Details
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).
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).
Methodology
Analysis of chromosomal Variable Number Tandem Repeats (VNTRs) and Amplified Fragment Length Polymorpisms (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 |
|---|---|---|---|---|---|---|
| 470074 | UPD DNA Analysis Proband | Pending | 470068 | Interpretation | 75394-7 | |
| 470074 | UPD DNA Analysis Proband | Pending | 470069 | Extraction | 8100-0 | |
| 470074 | UPD DNA Analysis Proband | Pending | 470072 | Director Review | 69426-5 | |
| 470074 | UPD DNA Analysis Proband | Pending | 512123 | 51967-8 |
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