Overview

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.

개요 이미지

What is a NewbornDiscovery ?

Early Diagnostics is the first step of healthy future

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.

NewbornDiscovery란 이미지
  • Chromosomal Abnormality Test

    Checks 23 pairs of chromosomes for structural
    abnormality. In case of such abnormality,
    symptoms can be seen after birth.

  • Genetic Defect Test

    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.

Detectable Diseases

With just one test, more than 100 newborn screening diseases can be tested including the following

NewbornDiscoveryanalyzes >100 newborn genetic disorders caused by genetic defects and
includes the following diseases.¹

검사질환 이미지
  • Inborn errors of metabolism
  • Endocrine disorder
  • Severe combined immunodeficiency
  • Hemoglobin disorders
  • Hearing loss

To whom is the test useful to?

Know your risk 검사대상 이미지
  • 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

Test Procedure

SD Genomics is a reliable genetic testing service company

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.

검사절차 이미지
Hospital
Draw Blood at the hospital.
The Testee receives information and fills out the
‘Genetic Test Consent’ form.
The hospital’s staff fills out “Genetic Test Request
form”.
SD Genomics
SD Genomics receives the samples and required
forms.
SD genomics performs the requested test and
analyzes its results.
SD Genomics fills out the test report and sends it
to the hospital.
Hospital
After receiving the report, the hospital dose the
genetic counselling.

Test info

Specimen
requirement
  • Dried Blood Spots (at least 4 with minimum of 1.3cm diameter each)
  • Minimum 2 Micro EDTA/purple cap tube (0.5 mL)
  • Minimum 1 EDTA/purple cap tube (3mL)
  • DNA 5-10 ug TE buffer (min. density 50 ng/uL, A260/A280 ratio : 1.65 ~ 2.0)
Sample Logistics
  • Dried Blood Spots (room temperature) stored in plastic/vinyl (for preventing any kind of damage)
  • Whole Blood or DNA 15-30 C room temperature(within 24 hours) 2-8 C refrigerated (within 7 days)
    -30 C Frozen (more than 7 days)
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)
* Consider the mode of inheritance in variant interpretation

Resources

References
1.Newborn screening: toward a uniform screening panel and system. Genetics in medicine : official journal of the American College of Medical Genetics. May 2006;8 Suppl 1:1S-252S.
2.Feuchtbaum L, Carter J, Dowray S, Currier RJ, Lorey F. Birth prevalence of disorders detectable through newborn screening by race/ethnicity. Genetics in medicine : official journal of the American
    College of Medical Genetics. Nov 2012;14(11):937-945