Uniparental Disomy

Abbrev Code:UPARDS   
Order Code:LAB6810Order 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.

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.

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


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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