Introduction To Whole Genomic Sequencing Test

Successful Genetic Assessment Reduces Misdiagnoses and Supports Early Interventions to Prevent Premature Mortality

• Cancers and cardiovascular disorders represent over half of the causes of premature death. Most of the these diseases are asymptomatic at onset, and are often reported as unexplained abnormalities by routine health examination.

• Although environmental factors and lifestyles affect the onset of these diseases, many of these disorders are associated with genetic causes.

• Adult and childhood unexplained abnormalities caused by genetic disorders are difficult to diagnose using standard-of-care procedures because their symptoms often overlap with other common disorders, and some individuals who carry the pathogenic mutations develop the disease while others do not.

• Over 7,000 human diseases can be classified as monogenic disorders, and these conditions affect millions of people worldwide. By examining over 22,000 genes simultaneously (and 3 billion bases), clinical whole genome sequencing test has been demonstrated to be effective in identifying genetic causes of monogenic diseases.

Sudden Cardiac Death

• Sudden Cardiac Death is a Significant Cause of Mortality

• Five million cases of Sudden Cardiac Death occur worldwide each year, representing approximately 20% of all deaths in Western societies.

Sudden Cardiac Death

• Sudden cardiac death (SCD) is an unexpected heart function loss that occurs within one hour of symptom onset or within 24 hours of the healthy individual last being seen alive. It can also be the first manifestation of genetic heart disease in a seemingly healthy person.

• Coronary artery disease is responsible for 70% of all SCD cases in the adult population over the age of 35. Long QT syndrome, Brugada syndrome, ventricular tachycardia, dilated and hypertrophic cardiomyopathy represent the majority of the remaining causes.

• A large number of SCDs at a younger age (individuals younger than 35 years old) have underlying genetic basis, including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, myocarditis, and different kinds of arrhythmogenic disorders including Brugada syndrome, long-QT syndrome, and catecholaminergic polymorphic ventricular tachycardia.

This whole genome sequencing test determines genetic mutations associated with sudden cardiac death & cardiovascular disorders

Cardiovascular Disorders

This whole genome sequencing test also detects gene mutations associated with a wide range of cardiovascular disorders. Conditions tested include aortopathies, arrhythmias, cardiomyopathies, thrombophilia, and genetic forms of high blood pressure and high cholesterol.

Asymptomatic individuals carrying a known pathogenic variant may benefit from clinical monitoring or preventive treatment with medications, and avoiding activities and certain medications that can trigger cardio disease symptoms.

Number of Genes Analyzed

• Sudden cardiac death: 111 Genes

• Sudden death: 127 Genes

• Arrhythmia: 475 Genes

• Cardiomyopathy: 620 Genes

• Abnormality of the cardiovascular system: 2641 Genes

• Abnormality of the nervous system: 3861 Genes

Testing Process

• The whole genome sequencing test is processed at U.S. CLIA-certified and CAP-accredited, or Hong Kong ISO-certified clinical laboratories

• Clinical report is issued by a board-certified medical director (Dual MD. & Ph.D. degree-holding genetics specialist)

• Optional genetic counseling will be provided by US and Australia board-eligible or board-certified genetic counselors with multiple years of clinical experience

• Patient privacy is protected by Rainbow’s HIPAA-compliant clinical testing process

Additional Report Options

Ordering Physician May Request -

• Carrier status report associated with recessive disorders

• Secondary/Incidental finding report related to patient’s personal health

We provide free referrals to physicians with substantial clinical genetic experience for pre- and post-test consultation.