Uniparental Disomy (UPD), DNA Analysis
| Uniparental Disomy (UPD), DNA Analysis | | | |
| Number | | 470054 |
| CPT | | 83891; 83894; 83900; 83912 |
| Synonyms | | UPD |
| Special Instructions | | A separate request form must be completed for each family member submitted. The patient's name, age, and relevant clinical and family history should be included on the corresponding request form. Please include chromosome pair to be studied. Blood specimens from both parents should be submitted, although a specimen from one parent may be sufficient in some cases. |
| Specimen | | Whole blood or amniotic fluid |
| Volume | | 7 mL whole blood or 10 mL amniotic fluid or amniocyte culture |
| Minimum Volume | | 3 mL whole blood or 5 mL amniotic fluid or amniocyte culture |
| Container | | Lavender-top (EDTA) tube, green-top (heparin) 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 |
| Use | | Establish the parent of origin for syndromes that may result from single parent inheritance of both homologues of a specific chromosome pair. 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 | | This procedure may be considered by Medicare and other carriers as investigational and, therefore, may not be payable as a covered benefit for patients. |
| Methodology | | Analysis of VNTRs and AMPFLPs by polymerase chain reaction (PCR) and gel electrophoresis |
| References | | Shaffer LG, Agan N, Goldgerg JD, et al, “American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy,” Genet Med, 2001, 3(3):206-11. |
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