Test Details
Methodology
Analysis of chromosomal Variable Number Tandem Repeats (VNTRs) and Amplified Fragment Length Polymorphisms (AMPFLPs) by polymerase chain reaction and DNA fragment sizing.
Result 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.
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 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.
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).
References
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
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 470115 | UPD DNA Analysis Parent | 36917-3 | 470111 | Interpretation | 36917-3 | |
| 470115 | UPD DNA Analysis Parent | 36917-3 | 470113 | Extraction | 8100-0 | |
| 470115 | UPD DNA Analysis Parent | 36917-3 | 512123 | 11502-2 | ||
| Order Code | 470115 | |||||
| Order Code Name | UPD DNA Analysis Parent | |||||
| Order Loinc | 36917-3 | |||||
| Result Code | 470111 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | 36917-3 | |||||
| Order Code | 470115 | |||||
| Order Code Name | UPD DNA Analysis Parent | |||||
| Order Loinc | 36917-3 | |||||
| Result Code | 470113 | |||||
| Result Code Name | Extraction | |||||
| UofM | ||||||
| Result LOINC | 8100-0 | |||||
| Order Code | 470115 | |||||
| Order Code Name | UPD DNA Analysis Parent | |||||
| Order Loinc | 36917-3 | |||||
| Result Code | 512123 | |||||
| Result Code Name | ||||||
| UofM | ||||||
| Result LOINC | 11502-2 |