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)