Uniparental Disomy Studies & Zygosity Testing
Description:
Microsatellite analysis using quantitative fluorescence PCR (QF-PCR) can confirm UPD suspected from molecular testing for chromosomes 7, 14, 15 or 16.
Microsatellite analysis using quantitative fluorescence PCR (QF-PCR) can distinguish between identical and non-identical twin pregnancies (twins) where there is clinical need to do so.
Microsatellite analysis using quantitative fluorescence PCR (QF-PCR) can distinguish between identical and non-identical twin pregnancies (twins) where there is clinical need to do so.
Clinical details:
Scientific studies have shown that uniparental disomy is occasionally the underlying cause of some genetic conditions including Silver-Russell syndrome, Prader-Willi and Angelman syndromes.
Synonyms or keywords:
Silver-Russell, Russell-Silver, Angelman, Prader-Willi, Zygosity, monozygotic, dizygotic.
Department:
Location:
Sample type and Volume required:
DNA sample (50ng), peripheral blood (5ml, 2ml from babies) in lithium heparin bottle, amniotic fluid in a dry sterile container (20ml), CVS (20mg) (discuss with the laboratory)
Turnaround time:
1 - 3 working days (prenatal) 14 days (urgent postnatal), 42 days (routine postnatal).
Please indicate on the referral form whether urgent analysis is required along with supporting clinical information (neonates (<mth) and patients needing urgent treatment)
Special sample instructions:
Request form available at: https://southeastgenomics.nhs.uk/wp-content/uploads/2023/08/SE-GLH-Non-WGS-Genetic-Test-Request-Form-August-2023-v1.5.pdf
- R264 Identity testing
- R263 Confirmation of uniparental disomy
Include the relevant R code (above) on the referral form; for further details and the eligibility criteria for testing please see https://www.england.nhs.uk/publication/national-genomic-test-directories/
Please note, if diagnostic testing for an imprinting disorder is required please activate the appropriate molecular test, see the genomic test directory https://www.england.nhs.uk/publication/national-genomic-test-directories/ and SEGLH rare disease test request information https://southeastgenomics.nhs.uk/glh/core-rd/
Storage and transport:
DNA and blood samples should arrive within 72 hours (preferably 24 hours). All prenatal samples must arrive in the laboratory on the day of sampling, preferably before 3pm. Please notify laboratory
Cost:
On application
Time limit for extra tests:
Do not spin down or freeze samples before sending.
Contacts:
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory:
Last updated: 26/10/2023
