Uniparental Disomy Studies & Zygosity Testing

Microsatellite analysis using quantitative fluorescence PCR (QF-PCR) can detect uniparental disomy for chromosomes 7, 14, 15 or 16. Samples from the proband and both parents are necessary for this test.

Microsatellite analysis using quantitative fluorescence PCR (QF-PCR) can 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.
Sample type and Volume required: 
DNA sample (50ng), peripheral blood (5ml) in lithium heparin bottle (2ml from babies), amniotic fluid in a dry sterile container (1 - 3ml), digested CVS (discuss with the laboratory)
Turnaround time: 
1 - 3 working days (prenatal) 2 weeks (postnatal)
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
On application
Time limit for extra tests: 
Do not spin down or freeze samples before sending.
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 07/08/2015