A testing panel of close to 300 serious and actionable conditions.
We use an Invitae panel that includes close to 300 recessive and x-linked conditions including Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X syndrome, Thalassemia, and Tay-Sachs disease.
These diseases are serious, actionable and relevant for patients to know about.
1. It’s comprehensive
When combined, the average risk of having a child with one of these diseases is higher than the risk of having a child with Down syndrome.
2. It’s actionable
Diseases that impact a child’s life expectancy or development & have limited treatment — where the knowledge of your risk can give you options.
3. It’s inclusive to all
Our test includes many serious diseases that are more common in different ethnic communities and are often excluded in industry standard tests.
An increasingly routine practice in preconception and prenatal care.
Everyone wants a healthy baby. Offering carrier screening to every patient, regardless of their ethnicity, age or family history, means better surveillance for more serious conditions. Knowing any risks in advance can help your patients make more informed reproductive choices; and if necessary, significantly reduce the risk of passing on a disease.
With both the RACGP and RANZCOG recommending that providers offer carrier screening to their patients who are family planning, the impetus to inform patients about carrier screening has never been greater.
of people screened by Eugene are found to be carriers of at least one disease.
of babies born with an inherited genetic disease had no family history of it.
of carrier couples are missed when only screened for CF and SMA3.