Detection of Trisomies 21, 13 and 18 in Newborns

Quantitative fluorescence PCR (QF-PCR) is an efficient and highly accurate method for the rapid detection of trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and triploidy. QF-PCR may also detect mosaicism for these chromosome disorders. Aneuploidy for the X and Y chromosomes can also be investigated where suspected. When chromosome aneuploidy is detected futher analysis of cultured cells is performed by G-banded chromosome analysis.
Clinical details: 
This test is suitable for babies under 1 month old with clinical features of Down syndrome, Patau syndrome, Edwards syndrome or Turner syndrome.
Synonyms or keywords: 
Rapid aneuploidy detection, Karyotyping, Chromosomes, QF-PCR.
Sample type and Volume required: 
Peripheral blood (2-3ml) in an EDTA and lithium heparin bottles, or 3μg DNA.
Turnaround time: 
1 - 3 working days for QF-PCR, 7-10 days for G-banded chromosome analysis.
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.

Print as a PDF

Last updated: 07/08/2015