- In the UK, the NHS newborn blood spot test (also known as the heel prick test) uses biochemical methods to screen for 9 inherited disorders.
- Igenomix has developed an advanced newborn screening test that uses genetic testing to detect a wider range of diseases.
- The Igenomix Newborn Screening (Igenomix NBS) test is a comprehensive genetic test that analyses 237 genes using Next Generation Sequencing (NGS) technologies, allowing the detection of more than 200 actionable medical conditions.
- For the NBS test, we accept a buccal swab or a blood sample.
- Igenomix NBS incorporates all diseases from the conventional newborn screening (heel prick test), in addition to a wide range of diseases selected using evidence-based medicine.
- The genes screened for cause genetic disorders that start in early childhood, such as metabolic, endocrine and immunodeficiency disorders.
- Through early identification of these disorders, the goal of Igenomix NBS is to allow a timely intervention to prevent intellectual and physical disabilities, as well as life-threatening illnesses.
- If requested, this test may also identify whether a child is a healthy carrier of any of these disorders, aiding reproductive choices for couples.
- Support from a genetic counsellor is offered.
Goals of Conventional Newborn Screening (NBS)
The goals of newborn screening are:
- Decrease morbidity and mortality of actionable diseases by performing an early intervention to improve neonatal and long-term health outcomes.
- Provide a universal health service of screening to all newborns.
- Identifying screen-positive newborns.
- Diagnosing conditions.
- Communication with families.
- Referral to treatment centers.
- Follow up with long-term outcomes.
- Educating physicians and patients.