PerkinElmer, Inc., a global leader focused on the health and safety of people and the environment, today announced that the Company's Signature Genomics Laboratories has launched its new Signature Precision Panel™| Prenatal diagnostic test for rapid testing of 15 common and severe chromosomal disorders.
“As one in 139 births is reported to exhibit a detectable chromosomal abnormality, the Signature Precision Panel | Prenatal diagnostic test, which is backed by comprehensive analysis, provides doctors and expectant parents with early clarity about certain potential health risks associated with those abnormalities.”
The Signature Precision Panel | Prenatal test is designed for pregnant women undergoing amniocentesis or CVS (chorionic villus sampling), who have been determined by their physicians to require specialized screening due to clinical or parental factors, such as maternal age. The test quickly detects some of the most common and potentially severe chromosomal conditions that affect fetal health, allowing physicians to provide preliminary results to patients within one to two days of the sample receipt at the laboratory, followed by a comprehensive and confirmatory final report direct to physicians.
"We are very excited to make this product available to physicians to better serve expectant parents who need an early, focused test to determine fetal risk for particular disorders during pregnancy," said Dr. Lisa G. Shaffer, president, PerkinElmer's Signature Genomics Laboratories, Specialty Diagnostics, PerkinElmer. "As one in 139 births is reported to exhibit a detectable chromosomal abnormality, the Signature Precision Panel | Prenatal diagnostic test, which is backed by comprehensive analysis, provides doctors and expectant parents with early clarity about certain potential health risks associated with those abnormalities."
The Signature Precision Panel | Prenatal diagnostic test is available to clinicians through PerkinElmer's Signature Genomics Laboratories to analyze placental tissue or amniotic fluid, extracted during a pregnant woman's chorionic villus sampling (CVS) or amniocentesis procedures, to determine whether an abnormal number of chromosomes (aneuploidies) or small losses of chromosomes (microdeletions) are present during pregnancy.
It is important for physicians to be able to detect common and severe aneuploidies and microdeletion syndromes quickly and accurately so that they can work with expectant parents and clinicians to modify the management of the pregnancy and create the best possible healthcare support network for the baby and parent.
Chromsomal aneuploidies and microdeletions affect the number and structure of chromosomes within the genome of an individual. These disorders may have severe effects upon the individual, requiring multiple types of medical intervention. The Signature Precision Panel | Prenatal panel tests for 15 common and severe microdeletion syndromes and aneuploidies of 5 chromosomes , including Down Syndrome, Trisomy 18, DiGeorge syndrome, Miller-Dieker syndrome, Prader-Willi syndrome, 1p36 microdeletion, and Wolf-Hirschhorn syndrome, among others providing early insight to parent and physicians regarding the overall health of the child. Signature Genomics offers a range of prenatal testing including karyotyping and microarray analysis. The Signature Precision Panel | Prenatal panel adds to the tests available to physicians and their patients seeking more information about their pregnancies.