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
healthier future for the newborn.
WHAT IS Newborn
NewbornScreening 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 screening 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.
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
Newborn Screening is genomic testing service that looks for 100 or more newborn screening diseases using NGS (next-generation sequencing) and has been developed with its applied analysis technology.
GENOBENET can be detected chromosome abnormalities (aneuploidy) and 5 Mb or higher segmental aneuploidy,
and other diseases including congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, and major lysosomal storage diseases.
GENOBENET focuse on analyzing >100 newborn genetic disorders caused by genetic defects and includes the following diseases.
Inborn errors of metabolism
Severe combined immunodeficiency
GENOBENET can be extended (350 relataed rare diseases) additionally screens metabolic diseases .