Uniparental Disomy
| Abbrev Code: | UPARDS | ||
| Order Code: | LAB6810 | Order Name: | Uniparental Disomy |
| Methodology: | Polymerase chain reaction (PCR) and DNA analysis | ||
| CPT Codes: | 81402 x1, 88233 x1, 88240 x1, 88235 x1, 88240 x1 | ||
| Turnaround Time: | Specimens are sent to reference laboratory Mon-Thur before 1300; results are reported within 5-21 days. | ||
| Special Instructions: | For optimal interpretation of results, 3 specimens are required to perform this test. In addition to child or fetal specimen, a blood specimen from both parents is required. Each specimen must have a separate order for Uniparental Disomy. Each specimen will be charged separately. Specimens must arrive at testing site within 96 hours of collection. | ||
| Compliance: | This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration. |
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Collection Instructions
| Specimen: | Blood and amniotic fluid |
| Optimal Volume: | 3 mL whole blood or 20 mL amniotic fluid |
| Container: | Purple (EDTA) Alternate Containers: Plastic leakproof container, sterile, Plastic leakproof container, sterile, Yellow (ACD, Solution A) tube available from laboratory |
| Collection Instructions: | Testing is also available on chorionic villi and confluent cultured cells. Contact Mayo Laboratory for further information. |
| Causes for Rejection: | Samples greater than 96 hours old. |
Processing and Shipping
| Specimen Processing: | Do not process. Store whole blood at room temperature and amniotic fluid refrigerated. |
| Shipping Instructions: | Ship whole blood at room temperature and amniotic fluid at refrigerated temperature. Samples must arrive Mon-Fri before 5 pm and within 96 hours of collection. |
| Test Performed at or Referral Lab | Lab Sendouts (Mayo Medical Laboratories) |
| Referral Lab number: | UNIPD |
Interpretive
| Reference Range: | By report. |
| Use: | Evaluation of patients presenting with features of disorders known to be associated with uniparental disomy (e.g. Russell-Silver syndrome). Evaluating of disease mechanism in individuals with rare autosomal recessive disease and only one carrier parent. Uniparental disomy testing is available for all chromosomes. |
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