Clinical Indication ID & Name
Confirmation of uniparental disomy
Test Group
Core/Specialised
Specialties
Test code
R263.1
Test name
N/A
Target genes
As relevant to clinical setting
Test scope
n/a
Test method/ technology
UPD testing
Optimal Family Structure
n/a
Eligibility Criteria
Confirmation of probable UPD identified by methylation testing at imprinted loci and UPD identified via other routes, for example SNP array, exome ore genome sequencing. This could include testing for mosaic genome-wide UPD
Commissioning group
Core/Specialised
Overlapping idications
n/a
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old