Overview

Preparing a healthier Tomorrow

Many of the acute cardiac arrest and sudden cardiac death are caused by genetic factors. In particular,
hereditary heart disease due to genetic factors has a higher risk of acute cardiac arrest and sudden cardiac
death at younger age.

Remarkable point is that when asked about disease history, the acute cardiac arrest and sudden cardiac
death patients, about 45% have not had had any previous history with cardiovascular diseases, and 40%
had very minor cardiac symptoms in the past. This may indicate that acute cardiac arrest and sudden
cardiac death is genetic in its nature.
Genetic cardiovascular disease can screen high-risk acute cardiac arrest and sudden cardiac death group
and allow intervention and management through early diagnostics and monitoring, helping prepare an
unforeseen misfortune.

Overview 이미지

What is a Heart discovery ?

Early Recognition leads to prevention

Heart discoveryis a NGS (next generation sequencing) based genetic test for genes that can cause
genetic heart diseases to screen high acute cardiac arrest and sudden cardiac death risk group.

To maximize diagnostic efficacy and utility, the service is divided into two versions, proactive and
diagnostic: proactive screens for clinical evidence based, frequently found mutations with well-established
association; diagnostic includes, in addition to mutations tested by proactive, additional genes that
cause heart diseases only being recently suggested by newer studies.

Heart discovery 이미지

Detectable Diseases

Only one test to know the risk of genetic heart diseases

Heart discoverytests for most of acute cardiac arrest and sudden cardiac death related diseases and include the following diseases.

To whom is the test useful to?

Know your risk 검사대상 이미지
  • Anyone whose family member has had a sudden death or sudden cardiac death.
  • Anyone whose family member has been diagnosed with heart diseases
  • Anyone whose family member has been diagnosed with hypercholesterolemia
  • Anyone who wishes to know their risk of heart diseases

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 Test 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
Hospital
After receiving the report, the hospital dose the
genetic counselling.

Test info

Specimen
requirement
  • Whole blood (3-5 cc EDTA tube)
  • DNA 5-10 ug TE buffer (min. density : 50ng/uL, A260/A280 ratio : 1.65-2.0)
Sample Logistics
  • Whole Blood or DNA 15-30 ℃ room temperature(within 24 hours) 2-8 ℃ refrigerated (within 7 days)
    -30 ℃ 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)

Resources

References
1. Wellens HJ et al., Risk stratification for sudden cardiac death: current status and challenges for the future, Eur Heart J 2014;35:1642-51.
2. Marian AJ et al., Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy, Circ Res 2017;121:749-770.
3. Maron BJ et al., Epidemiology of Hypertrophic Cardiomyopathy-Related Death, Circulation 2000;102:858-64.
4. Hopkins PN., Putting Into Perspective the Hazards of Untreated Familial Hypercholesterolemia, J Am Heart Assoc 2017;6.pii:e006553.
5. Lau EM et al., Early detection of pulmonary arterial hypertension, Nat Rev Cardiol 2015;12:143-55