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.
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.
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.
Checks 23 pairs of chromosomes for structural
abnormality. In case of such abnormality,
symptoms can be seen after birth.
Genetic Defect Test checks for defects in molecular level of genes which consist the chromosomes. If there are defects in related gene of the diseases, it may be symptomless at birth, but after symptom becomes apparent, the disease may have progressed enough such that treatment and management are difficult or impossible.
analyzes >100 newborn genetic disorders caused by genetic defects and
includes the following diseases.¹
SD Genomics performs genetic tests to the requests of medical institutes following the Bioethics and Safety Act. Prior to service request,
understanding the objective of the test, reporting method of the test, and limitations of the test is necessary.
|Required Documents||Test Requirement and Consent form (provided below)|
|TAT||Within 4-6 weeks|
|Report Criteria||Positive : When genetic variants that are likely to cause diseases are found|
|Negative : When genetic variants that are likely to cause diseases are not found|
|Uncertain: When genetic variants are found, but is not possible to be interpreted due to current level of medicine
(When requesting institute has supplied with phenotype information)