Uniparental Disomy
Use
The Uniparental Disomy test is used for evaluating patients with a personal or family history of Robertsonian chromosomal translocations. It is also applied to patients presenting features of disorders known to be associated with uniparental disomy. In addition, this test serves as a follow-up for chromosomal microarray results that indicate regions of homozygosity or absence of heterozygosity. It aids in evaluating the disease mechanism in individuals with rare autosomal recessive diseases who have only one carrier parent.
Special Instructions
Specimens are required from the fetus or child and at least one parent for testing. Both parents are recommended for optimal interpretation of the results. The chromosome of interest must be specified on the request form. For prenatal specimens, additional charges will apply for amniotic fluid culture or fibroblast culture. Maternal cell contamination testing will also incur additional charges for prenatal and cord blood specimens with accompanying maternal blood.
Limitations
The test is specific to the detection of uniparental disomy via polymerase chain reaction of microsatellite markers. The results depend on the proper specification of the chromosome of interest. The presence of maternal cell contamination can impact the accuracy of prenatal testing results. Interpretation may be limited if optimal specimens from both parents are not available.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided