Among them, a cardiovascular disease with high heritability is called hereditary cardiovascular disease.
The incidence of this kind of disease is caused by gene mutation, and its genetic ratio is very high, which will spread widely in families with genes and greatly threaten the health of the whole family.
At present, genetic mutation has caused at least 1 10 million people in China to suffer from hereditary cardiovascular diseases.
The disease is recessive, and the danger of the disease lurks in the body. It takes years, decades or even decades for obvious symptoms to appear.
Once the disease occurs, the clinical manifestations are extremely dangerous, such as sudden death, malignant arrhythmia, heart failure, aortic rupture and so on.
In the past, due to the lack of early diagnosis methods, the disease was generally late and difficult to save, so it was considered as an incurable disease.
If early diagnosis can be achieved, clinicians will have rich means and experience in the prevention and treatment of such diseases.
In recent years, with the continuous development of science and technology, especially gene technology, genome medicine has brought hope to these "intractable diseases".
Using the most advanced gene detection technology, we have been able to make an early and accurate genetic diagnosis of hereditary cardiovascular diseases at the gene level.
2. Why can genetic testing achieve an accurate diagnosis of 100%?
These diseases are typical "monogenic genetic diseases".
Single gene heritability
Disease means that as long as any related pathogenic gene mutates, the occurrence of disease is inevitable, that is, 100% will occur.
On this premise, by detecting all known pathogenic genes related to monogenic genetic diseases, once the mutation of pathogenic genes is found, the disease can be accurately diagnosed.
3. Who is suitable for this test?
This test is especially suitable for the following people:
L Health examination of normal people, especially:
N white-collar workers engaged in high-intensity mental work;
N social elites with high work pressure;
N young people engaged in strenuous sports such as track and field and football;
L Family history, or sudden cardiac death of family members under the age of 50;
L have a history of unexplained syncope or similar suspected symptoms;
L pay attention to the next generation of healthy people and conduct pre-pregnancy and prenatal screening;
L. neonatal health examination;
L successful people who care about personal and family health;
L high-end people with special needs for health services.
4. What diseases are examined in this examination?
The gene diagnosis product is mainly used for accurate gene diagnosis of the following 29 hereditary cardiovascular diseases:
Disease category
Disease name
Hereditary cardiomyopathy
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Left ventricular noncompaction
Right ventricular hypoplastic cardiomyopathy
Hereditary arrhythmia
Brugada's syndrome
Deteriorating familial cardiac block
Long QT interval syndrome
short QT interval syndrome
sick-sinus-syndrome
sudden-infant-death-syndrome
Familial ventricular fibrillation
Familial atrial fibrillation
Catecholamine-sensitive polymorphic ventricular arrhythmia
Hereditary macrovascular disease
Marfan syndrome
Solitary supravalvular aortic stenosis
Loy-Dietz syndrome
Familial thoracic aortic aneurysm/aortic dissection
Hereditary hypertension
Primary low renin hypertension
pheochromocytoma
Congenital heart disease
Congenital atrial septal defect
Congenital atrioventricular septal defect
Trap syndrome
Darson's syndrome
Holt-Oran syndrome
Congenital transposition of great arteries
Tetralogy of Fallot
Hereditary metabolic disease
glycogen storage disease
Fabry disease
Congenital dyslipidemia
The detection covers 2400 expression regions of all known genes related to the above diseases, including about 450000 gene information related to pathogenicity.
5. What can the test achieve?
At present, the prevention and treatment methods and experience of this kind of disease are very rich, but it often makes this kind of disease face the embarrassing situation of "treatment without diagnosis".
Early diagnosis is the key to hereditary cardiovascular diseases with high incidence, high heritability, dangerous clinical manifestations, high risk of death and poor prognosis. Early diagnosis and early treatment can avoid all kinds of malignant consequences caused by such diseases and save the precious lives of subjects and other family members.
But unfortunately, all kinds of traditional detection methods widely used now can't make an accurate early diagnosis of this kind of disease.
This test fundamentally solves this problem: 100% can be diagnosed by genetic testing.
After the diagnosis by gene diagnosis, it can guide the subjects to carry out early intervention treatment; At the same time, it can screen other members of the patient's family, identify other disease-causing gene carriers in the family, and completely eliminate the danger brought by such diseases in the family.