The company’s menu of tests and screenings include genomic risk assessment assays for various cancers, heart disease, and diabetes, as well as women’s health panels, toxicology, allergy testing, pharmacogenomics, routine blood chemistry, and now, NIPT. Introduced to the U.S. roughly ten years ago, NIPT is provided as a screening method for chromosomal abnormalities such as Trisomy 21 (Down Syndrome) and can indicate the sex of a developing baby. It has continued to grow in popularity among women during pregnancy because it is risk-free and highly accurate.
Before NIPT, Chorionic Villus Sampling (CVS) and amniocentesis were the most widely used for the detection of chromosomal abnormalities. These methods are still performed today as diagnostic tests, but involve sampling of the placenta or amniotic fluid, which presents a risk to the pregnancy. Noninvasive prenatal testing is risk-free because it is simply conducted with a blood sample from the mother as early as 10 weeks into the pregnancy.
“We feel that NIPT should be offered as an option to every mother during pregnancy,” says Kevin Murdock, CEO and founder of PMLS. “We are proud to add this testing to our menu, providing top level screening so that obstetricians can safely provide meaningful information for their patients during pregnancy.”
As a laboratory, PMLS strives to offer only the most advanced and accurate testing and screening available for optimal patient care. NIPT at PMLS is conducted with state of the art Illumina whole-genome sequencing and next-generation sequencing (NGS) technology.
Whole-genome sequencing and NGS has been shown to result in substantially lower test failures than other NIPT methodologies such as targeted sequencing and array-based methods. The test is not diagnostic but is used as a highly accurate screening method for aneuploidies, also known as chromosomal abnormalities.