Uniparental Disomy


Sunquest Code:UPARDS  
Epic Code:LAB6810Epic Name:Uniparental Disomy
Methodology:Polymerase chain reaction (PCR) and DNA analysis
CPT Code:81402, 88233, 88240, 88235, 88240
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.



Collection Instructions

Specimen:Blood and amniotic fluid
Optimal Volume:3 mL whole blood or 20 mL amniotic fluid
Container:Purple (EDTA) (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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