The very best for your new baby
What is Newborn Screening?
Following birth, an infant will undergo testing called newborn screening. Approximately 24-48 hours after birth, a blood sample is collected through a heel poke. The sample is then sent to the state laboratory for testing. At the laboratory, several biochemical tests are performed to screen for a select number of serious, inherited metabolic conditions. If these conditions are identified and treated early, a child usually develops normally and lives a healthy life. Unfortunately, if these conditions are not recognized within a very sensitive time window, it may be too late. Once symptoms appear, they are often irreversible and lead to severe health problems or even death. With early detection, physicians and parents have the opportunity to be proactive and change a child’s life forever.
During the biochemical testing, different components and levels are tested within the blood specimen. Unfortunately, there are occasional false results involved within this process. Biochemical testing is often sensitive to the time of sample collection, the infant’s health condition, medications administered to the child or mother, and collection technique. In addition, many conditions have “late-onset” characteristics in which the newborn screening will not reveal abnormalities but the child may exhibit disease-related complications later in life.
The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) recommends screening for 32 core conditions and 26 secondary conditions as identified by the American College of Medical Genetics (ACMG). For a complete list, click here https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html. Newborn screening is a state-mandated program; therefore, each state individually establishes the list of screened conditions. To find out what your state screens, click here.
Why Baby Genes Supplemental Newborn Screening?
While state-mandated newborn biochemical testing is a huge step forward in improving the early diagnosis of these genetic conditions, it is really only a first step in ensuring you have the full picture of your baby’s health. Baby Genes Supplemental Newborn Testing is a reliable genetic test that can help ensure that critical information about your child’s genetic condition ls not missed, and get them the early care they need.
While current newborn screening (NBS) tests for abnormalities metabolically, Baby Genes tests the child’s genetic make-up (DNA) for indications of these conditions. Genetic testing is a direct method to identify the presence of a harmful mutation that may cause the manifestation of a particular condition. Genetic information may also aid in the identification of a “late onset” condition that may manifest later in a child’s life.
DNA is the genetic “blue print”for the human body. Because it is unlikely to change during the first days of life, it is a very reliable testing source. Baby Genes results are not affected by the child’s age, health condition, or treatment plan; therefore the specimen can be collected immediately following birth for infants of all health conditions. After overnight shipment to the laboratory, results will be reported within 96 hours.
Reliable in the NICU
Premature or sick infants in the neonatal intensive care unit (NICU) are often susceptible to unreliable NBS results. False results are common with newborns in the NICU due to their unstable metabolic state or medications administered. By testing the DNA (genetic make-up) of the child, Baby Genes Supplemental testing can provide accurate results in a rapid manner. These results may shorten the child’s NICU stay or quicken the overall diagnostic process.
All Inclusive Testing
Baby Genes Newborn Panel includes the testing of 100 genes clinically linked to 72+ conditions. The panel includes the ACMG recommended core and secondary conditions, along with additional conditions that have been nominated for inclusion. All 100 genes are included within the testing, making it an all-inclusive method of newborn screening. To learn more about what genes and diseases are included in Baby Genes testing, click here.
Affordable & Cost-effective
Baby Genes Supplemental Testing can provide rapid confirmation of abnormal metabolic results. It may also aid in the verification of false results that would have otherwise required extensive follow-up testing. To learn more about follow-up testing please click here [/ink to rapid follow up page].
Obtaining metabolic and genetic results within the first days of life enables rapid diagnosis of conditions. With early diagnosis, treatment can be initiated to provide the best care for the newborn. The combination of the two testing methods can quickly confirm metabolic results that may otherwise require lengthy follow-up testing.
Take the next step for your family's health.
Order a kit today, or start a conversation with your physician.