UPD Testing
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 a for a small group of chromosomes this can result in a group of unrelated conditions called imprinting disorders. UPD of chromosomes 6,7,11,14 and 15 are known to be associated with genetic conditions.
Category
Cost
All patients: Proband and parents as per microarray analysis.
Reporting time
Postnatal: 3-4 weeks
Postnatal urgent: 10-15 days
Prenatal: 10-15 days
Contacts
David Francis
Phone (03) 8341 6258 (Lab)
Phone (03) 8341 6282 (direct)
Specimen Requirements
EDTA blood: Adults/Children: 5 ml
Saliva (please contact laboratory for saliva kits)
Notes
Formally a microsatellite test, now available using SNP microarray. Must have DNA/ blood from the proband AND at least one parent (blood from both parents is preferred)