Uni-parental disomy
Overview
We all have 23 pairs of chromosomes with one chromosome of each pair coming from each parent. Uni-parental disomy (UPD) occurs when both copies of the one chromosome come from one parent. For most chromosomes this does not affect how we develop. But for a small group of chromosomes this can lead to imprinting disorders. UPD of chromosomes 6,7,11,14, 15 and 20 are known to be associated with genetic conditions.
Testing can be included as part of microarray testing if clinically indicated (parental samples are required). There is no additional out of pocket cost if patient is already having microarray testing. We also offer standalone UPD testing which has an out of pocket cost (see non-Medicare cost below).
Test type
Genome-wide chromosome microarray (molecular karyotype)
Turnaround time
Postnatal: 3-6 weeks (urgent in 8-10 days)
Prenatal: 10-15 days
Cost
Bulk billed parental samples where eligible.
Non Medicare postnatal trio $1111.45
Non Medicare prenatal trio $945.40