Sequenom, a provider of testing and genetic analysis solutions, has announced its wholly owned subsidiary, Sequenom Center for Molecular Medicine, doing business as Sequenom Laboratories, has launched the Enhanced Sequencing Series for its MaterniT21 PLUS laboratory-developed test (LDT).
The MaterniT21 PLUS test will begin reporting additional findings for the presence of subchromosomal microdeletions and autosomal trisomies for chromosomes 16 and 22, in addition to the previously announced additional findings for sex chromosome aneuploidies involving an abnormal number of the X or Y chromosomes. These additional findings complement the MaterniT21 PLUS test core identification of trisomies for chromosome 21, chromosome 18 and chromosome 13. With this expansion, the MaterniT21 PLUS test is the first-of-its-kind noninvasive prenatal technology (NIPT) to provide these comprehensive results from a maternal blood draw.
Sequenom Laboratories will begin reporting on these select, clinically relevant microdeletions, including 22q11.2 deletion syndrome (DiGeorge), Cri-du-chat syndrome, Prader-Willi/Angelman syndrome, 1p36 deletion syndrome, as well as trisomies 16 and 22 during the last week of October. Results from a method validation study demonstrated high performance of the test (>99% specificity) in accurately detecting these autosomal trisomies and select microdeletions.
Sequenom Laboratories was the first to market a noninvasive prenatal LDT for trisomies for chromosomes 21, 18 and 13. With the Enhanced Sequencing Series, the test will begin reporting on select, clinically relevant microdeletions, including 22q11.2 deletion syndrome (DiGeorge), Cri-du-chat syndrome, Prader-Willi/Angelman syndrome, 1p36 deletion syndrome, as well as two additional trisomies (Trisomy 16 and Trisomy 22).
The test is intended for use in pregnant women at increased risk for fetal chromosomal aneuploidies and can be used as early as 10 weeks' gestation. Estimates suggest there are about 750,000 pregnancies at high risk for fetal aneuploidy each year in the U.S.