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About the technology

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Fig 1: Changes in the mortality rate of main diseases of Chinese urban residents from 1990 to 2012 

(The red line shows the tendency of cardio-cerebral-vascular disease)


Hereditary arrhythmia refers to the adverse cardiac event caused by ion channel dysfunction. Hereditary arrhythmia usually features familial aggregation, and most patients demonstrate autosomal dominant inheritance.


According to statistics, cardiovascular disease resulted in 255 deaths out of 100,000 patients in 2012, the highest mortality rate among other diseases. Of the patients, around 540,000 died of sudden cardiac death, that is, one death every minute. Moreover, the number of young patients rises year by year. Sudden death has become a “hidden killer” in people’s daily life. Hereditary arrhythmia is an important trigger of sudden cardiac death. Currently, arrhythmia is mainly diagnosed according to patients’ medical records, clinical manifestations, and ECG. It is difficult to detect arrhythmia at an early stage.


1. Gene susceptibility and hereditary arrhythmia

Bearing the feature of autosomal dominant inheritance, hereditary arrhythmia is a condition without completely explicit pathogenic gene. As a result, hereditary arrhythmia carriers often show no symptom, but faces higher risk of attack than non-carriers. Once hereditary arrhythmia attacks, poor prognosis ensues. For resting carriers with pathogenic gene, corresponding intervening measures can be adopted to prevent occurrence of malignant arrhythmic events.


2. Drug induction and hereditary arrhythmia

Hereditary arrhythmia induced by drugs is challenging both carriers and doctors. For example, the group with possibility of pathologic gene mutation tends to have longer QT interval. Particularly in the cases where certain medicine is administered, every 10 millisecond of delay in QTc indicates 5% higher risk of arrhythmic event occurrence. Determining the type of gene mutation by means of gene detection can help effectively prevent drug-induced risks and set the optimal treatment protocol.


3. Content of the test

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Comprehensive test:

55 common genes

All 817 exons

133,000 abasic sites in total



 

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