Preparing for child’s healthier future
Newborn Screening is a test for newborns that looks for irrecoverable, or diseases that can cause
mortality before symptoms occur, ensuring a healthier life by allowing for prevention, treatment and
management of diseases.
Most of the newborn screening diseases are symptomless at birth. In case of some diseases, symptoms
occur only after irrecoverable damage has already been done to organs. If newborn screening is done
soon after birth, prevention of symptoms and worsening of symptoms can be possible, allowing a
healthier future for the newborn.
WHAT IS Newborn
NewbornDISCOVERY is genomic testing service that looks for 100 or more newborn screening diseases using NGS (next-generation sequencing) and has been developed with major hospitals in Korea on a national grant.
NewbornDISCOVERY is a test to find genetic defects related to the diseases, and unlike chromosomal abnormality test, the test looks for diseases that can be diagnosed, treated or managed with current medicine so immediate response is possible.
Newborn whose siblings have history of newborn screening diseases
Newborns with positive result of government funded Newborn Screening Test
Newborns with abnormal tandem mass spectrometry test results
Symptomless newborns that want extra measures
NewbornDiscovery is created out of the medical needs of the rare diseases specialists.
NewbornDiscovery screens for diseases that can lessen the irreversible damage and/or prevent mortality if correctly diagnosed and treated or managed to prevent severe sequelae, thus maximizing the utility of screening.
NewbornDiscovery can be detected by routine tandem mass spectrometry and other diseases including congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, and major lysosomal storage diseases.
NewbornDiscovery Focused analyzes >100 newborn genetic disorders caused by genetic defects and includes the following diseases.
Inborn errors of metabolism
Severe combined immunodeficiency
NewbornDiscovery Extended (259 genes) additionally screens metabolic diseases (e.g. glycogen storage diseases), hearing loss, hemoglobin disorders, congenital nonhemolytic hyperbilirubinemia, and severe combined immunodeficiency.