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Genetic Tests from Sequenom CMM
Scientists at the lab use Sequenom’s proprietary MassARRAY® system, which allows direct mass measurement of nucleic acids, providing unparalleled precision and quantitation. Its sensitivity and multi-plexing capabilities make it a leading high-performance platform for DNA analysis.
Tests Utilizing SEQureDx Technology
Fetalxy, Fetal RHD Genotyping and Trisomy 21 will utilize SEQureDx™, a new proprietary, noninvasive technology from Sequenom, Inc., that enables the detection and analysis of circulating cell free fetal (ccff) nucleic acid (RNA or DNA) in a pregnant woman. The technology is a revolutionary approach to prenatal genetic testing. Rather than harvesting placental tissue cells (as is required for chorionic villus samples), or entering the uterus to sample the amniotic fluid (as is done with amniocentesis), circulating cell free fetal nucleic acid can be extracted safely and comfortably from the blood of the mother.
SensiGene Cystic Fibrosis Carrier Screen
The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) recommend cystic fibrosis (CF) carrier screening be offered to all Caucasian couples (including Ashkenazi Jews) who are pregnant or considering pregnancy, and also made available to all patients regardless of ethnicity.1 Sequenom CMM now offers SensiGene™ Cystic Fibrosis Carrier Screening Test with 103 known CF mutations and 5 variants, including the 23 mutations recommended by ACMG. This test is the largest CF carrier screening panel currently available.
Fetal Sex Determination
Sequenom CMM will offer a fetal sex determination test (Fetalxy) using SEQureDx technology. The ability to identify male DNA in maternal plasma has led to successful tests that determine fetal sex early in pregnancy. The total amount of ccff nucleic acid in maternal plasma is relatively low and because of this, the Sequenom CMM Fetal sex determination test will detect Y-chromosome sequences at low copy numbers. This test will also incorporate an additional quality control test to confirm the presence of paternally inherited nucleic acids, such as alleles, in the absence of male-specific DNA to facilitate the distinction between maternal and female fetus genetic information.
Fetal RHD Genotyping
Sequenom CMM will offer a fetal RHD genotyping test using SEQureDx technology. The analysis of circulating cell free fetal DNA provides the ability (among other tings) to detect single gene sequences and mutations that are not present in maternal DNA. This enables the analysis of fetal RHD genotype and may be considered a valuable tool in the identification of pregnancies at risk for hemolytic disease of the newborn. This test will also incorporate an additional quality control test to confirm the presence of paternally inherited nucleic acids, such as alleles, in the absence of RHD and male-specific DNA to facilitate the distinction between maternal and female fetus genetic information.
Trisomy 21
Sequenom CMM will offer a prenatal test to detect Trisomy 21 through a maternal blood sample. While current Trisomy 21 methodologies utilize surrogate markers and provide risk ratios, the test is being designed to provide risk ratios, this test is being designed to provide a genetic assessment of the fetus. Development objectives include high and accurate detection rates, which can provide an advanced alternative and a more individualized approach to the recommendation of invasive diagnostic procedures such as chorionic villus sampling (CVS) or amniocentesis.
For more information call 1-877-821-7266 (SCMM).
- Update on carrier screening for cystic fibrosis. ACOG Committee Opinion No. 325. American College of Obstetricians and Gynecologists. Obstet Gynecol 2005; 106:1465-8.