Sema4 Natalis screens for 193 genetic conditions that can affect children before the age of 10. In the case of a positive result, early detection may allow for faster diagnosis and treatment before symptoms appear. This test only includes conditions that may be treated* with medication, dietary modification, or other therapies, including
- G6PD deficiency: For some conditions, like G6PD deficiency, simple dietary changes may help prevent serious health issues. G6PD deficiency is a common inherited condition that can cause mild-to-severe anemia when a child is exposed to fava beans, artificial blue food coloring, or foods with sulfites (a common preservative). Early awareness of G6PD deficiency, and avoidance of possible triggers, may help a child with this condition lead a normal, healthy life
- Atypical epilepsy: Vitamin supplementation may help treat conditions, such as pyridoxine-dependent epilepsy. This rare form of epilepsy can be difficult to diagnose and doesn’t respond to typical seizure medications. Instead, seizures and other serious neurological symptoms of pyridoxine-dependent epilepsy are usually treated with vitamin B6 supplementation. Early detection and diagnosis of this condition may help a child’s doctor select the most effective treatment quickly
- Spinal muscular atrophy: A newly-developed, FDA-approved molecular therapy may improve symptoms of spinal muscular atrophy (SMA). SMA is a genetic disease that affects the nervous system. Starting treatment for SMA early, before symptoms appear, may help a child gain the greatest benefit from treatment
- Glycogen storage diseases: Multiple therapies are available for many of the conditions detected by this test, including glycogen storage diseases. Sema4 Natalis detects several types of glycogen storage disease, a condition where the body can’t break down a complex sugar called glycogen. If left undetected, these conditions can cause muscle and liver problems. However, early diagnosis and treatment with medication, dietary changes, and other therapies has been shown to help control symptoms
- Childhood cancers: Sema4 Natalis can also detect certain childhood cancers, such as retinoblastoma and Wilms tumor. Early detection allows for proactive screening for any signs of cancer and treatment with surgery, chemotherapy, and/or other therapies if necessary
*Always consult with your child's pediatrician before taking any medical action or starting treatment based on the results of screening with Sema4 Natalis.