Prenatal Genetic Testing

Ravgen was founded with the goal of developing fetal DNA sequencing methods for patients seeking a prenatal test which is both safe during pregnancy and highly accurate. The key to developing this technology lies in Ravgen’s ability to increase the percentage of fetal DNA present in blood from the pregnant mother. Current applications for noninvasive prenatal testing include: single gene disorders such as cystic fibrosis, sickle cell anemia, the Eastern European Jewish panel, and paternity testing.

Please browse for each noninvasive prenatal test to learn more about our research and testing. Ravgen welcomes inquiries regarding prenatal tests that are also not seen here, as our laboratory is continuously moving forward in this field.

Prenatal Down Syndrome Testing

Our goal is to develop a fetal DNA based sequencing method to allow for safe, noninvasive, and accurate prenatal diagnosis of genetic disorders early in pregnancy.

Ravgen published its noninvasive prenatal testing technology in a two-step process. In 2004, our first paper in the Journal of the American Medical Association (JAMA) described the methods to increase the percentage of fetal DNA present in a tube of blood from the mother by adding a fixative to prevent maternal cell lysis. In 2007, a second publication in The Lancet presented a study showcasing its ability to use this technology to detect the presence of all or part of a third copy of chromosome 21 in Down syndrome from a blood draw using Ravgen’s non-hybridization- based DNA sequencing method. Ravgen has spent over a decade developing noninvasive prenatal Down testing and it continues to be under research and development at this time.

Single Gene Disorder Testing

Ravgen’s ability to increase the percentage of fetal DNA present in blood from the pregnant mother allows noninvasive prenatal genetic testing for single gene disorders, such as cystic fibrosis and sickle cell anemia. When a pregnant mother and her partner are both carriers for a recessive single gene disorder, they have a 1 in 4 chance of having a baby affected with that genetic condition, or 2 in 4 chance of having a baby that is a carrier.
Our noninvasive prenatal single-gene disorder testing is a safer and earlier alternative than invasive tests like chorionic villi sampling (CVS) or amniocentesis. Single gene disorders that can be tested by noninvasive prenatal testing include: cystic fibrosis, sickle cell anemia, spinal muscular atrophy, Duchenne muscular dystrophy, and any other single-gene disorder for which the mutation is known. Ravgen welcomes inquiries regarding prenatal tests which are not seen here as our laboratory is continuously moving forward in the field.