Technology

Mass Spectrometry-based Technology

Scientists at our lab use advanced analysis tools to develop clinical diagnostic tests. Tests offered by Sequenom CMM—the SensiGene™ family of tests—incorporate Sequenom’s proprietary MassARRAY® system*, a high performance mass spectrometry based nucleic acid analysis platform that quantitatively measures genetic target materials and its variations in a rapid and accurate manner. This highly sensitive platform enables the detection of small amounts of genetic material and supports a variety of applications required for performing complex molecular diagnostic tests.

SEQureDx Technology

SEQureDx,™ a proprietary, noninvasive technology from Sequenom, Inc., enables the detection and analysis of circulating cell-free fetal (ccff) nucleic acids (RNA or DNA) in a pregnant woman’s blood sample. Rather than harvesting placental tissue cells or entering the uterus to sample the amniotic fluid, circulating cell-free fetal nucleic acid can be extracted safely from maternal blood. The technology is a revolutionary approach to prenatal genetic testing. Since the demonstration of ccff DNA in maternal plasma in the late 90’s, many studies have been undertaken to establish the clinical utility of this methodology in noninvasive prenatal tests. Ccff DNA reportedly can be detected routinely at 12 weeks, showing promise for noninvasive fetal DNA tests in the 1st trimester.¹ Compared to testing intact fetal cells isolated from maternal blood, there are significant advantages to testing ccff DNA in maternal plasma:

• Ccff DNA reportedly can be detected routinely at 12 weeks, showing promise for noninvasive fetal DNA tests in the 1st trimester.¹
• There is little risk of interference of ccff DNA from previous pregnancies because the turnover of circulating fetal DNA is quite rapid. Circulating fetal DNA is undetectable by 2 hours postpartum and has a mean half life of approximately 15 minutes. Therefore, the fetal DNA sample being analyzed is from the current pregnancy and not representative of prior pregnancies.³

These unique characteristics of ccff DNA provide assurance of rapid, reliable and reproducible noninvasive prenatal tests that can be easily carried out for a large number of samples.¹

*The MassARRAY system is currently for research-use-only. Not for use in diagnostic procedures. 

References

1. Bianchi, D.W. (2004). “Circulating fetal DNA: its origin and diagnostic potential-A Review.” Placenta 25, Supplement A. Trophoblast Research, Vol. 18, S93–S101.
2. Lo, Y.M.D., Corbetta, N., Chamberlain, P.F., RAI, V., Sargent, I.L., Redman, C.W. (1997). “Presence of fetal DNA in maternal plasma and serum.” Lancet 350:485.
3. Lo, Y.M.D., Zhang, J., Leung, T.N., Lau, T.K., Chang, A.M., Hjelm, N.M. (1999). “Rapid clearance of fetal DNA from maternal plasma.” Am J Hum Genet 64:218–24.