Uniparental Disomy
Order Code: UPD
Epic Lab Code: LAB4602
Order Form: A-1a Miscellaneous Request or Epic Req
Commercial Mail-out Laboratory
6240 RCP
356-3527
Specimen:
Whole Blood
Collection Medium:
Lavender top tube 3 mL (EDTA)
Alternate Collection Media:
Yellow top tube (ACD solution A)
Minimum:
3 mL whole blood
Rejection Criteria:
Specimens must arrive within 96 hours of collection.
Analytic Time:
2 weeks upon receipt at reference laboratory
Reference Range:
An interpretive report will be provided which will include a risk analysis (probability of being a carrier).
Comments:
Sample from fetus or child to go along with a blood specimen from both parents is required for the analysis. Each specimen will be charged separately.

Please print, complete, and submit the following with the appropriate signatures and the correct sample type: Molecular Genetics - Congenital Inherited Diseases Patient Information Sheet and the Informed Consent for DNA Testing from Mayo Medical Laboratories with the A-1a Miscellaneous Request.

Other samples types may be appropriate for this testing, please check with Mailouts at 356-8592 during the hours of 0800-1630 Monday through Friday.
Methodology:
Polymerase chain reaction (PCR)/microsatellite markers on the chromosome of interest are used to test DNA from parents and child for the presence of uniparental disomy.
CPT Code:
83890, 83891, 83898(x6), 83900(x3), 83909(x6)
 
See also:
Angelman Syndrome, Whole Blood