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Genetic disease is the result of genetic or chromosomal abnormalities, these abnormalities are passed from the previous generation (grandparents, parents) to the next generation (children, grandchildren). Genetic disorders caused by genetic abnormalities can be dominant, recessive or X-linked. Chromosomal genetic diseases are diseases caused by loss of chromosomes. chromosomal abnormalities, or excess chromosomes.
1. Causes of genetic diseases?
Some people have genetic diseases by inheriting mutations from previous generations (grandparents, parents). However, there are mutations that can occur randomly or by continuing with some factors such as: physical factors (radiation, ..), chemical factors (toxic chemicals,...), biological factors (viral infection, ..).
2. Types of genetic diseases?
There are 4 types of genetic diseases:Monogenetic diseases Polygenic genetic diseases Genetic disorders caused by chromosomal abnormalities Inherited diseases caused by mutations in mitochondrial genes
Hình ảnh nhiễm sắc thể bất thường
How to find out if I carry a mutated gene or have a genetic disease?
Family history of diseases: Genetic diseases often occur in family members, so the characteristics of the members' pathological signs are an important factor in the assessment and diagnosis of the disease. Personal medical history: is information about health, illness, reactions to drugs, environment, ... Screening test results, general health examination are also the first steps. help suggest a diagnosis
Xét nghiệm khám sức khỏe tổng quát giúp phát hiện bệnh lý sớm
3. Tests to detect genetic diseases?
Based on family and personal history and laboratory tests, the needs of the patient, the geneticist will make a diagnosis of genetic disease.
Test to detect disease carriers : this test aims to find mutations in people who have mutations but do not have genetic diseases, indicated for autosomal recessive inherited diseases (anemia) diffusion, spinal muscular atrophy, ...) Diagnostic tests for people with genetic diseases: finding the genetic abnormality causes the pathological condition, from which there are directions for counseling, treatment and prevention for the disease. following system. Newborn screening test: early detection of common genetic diseases, thereby preventing and mitigating possible consequences caused by genetic abnormalities. For newborn screening, the diseases that are often screened are those related to hemolytic anemia, metabolic diseases, endocrine diseases, ... Prenatal diagnostic tests: for families with At risk of having a baby with a genetic disease, especially for couples with a history of having a child with the disease, genetic counseling and prenatal diagnosis are recommended. Preimplantation embryo screening test: the purpose of screening and diagnosis of chromosomal abnormalities and some monogenic genetic diseases of embryos before transferring that embryo into the mother's uterus. Tests to assess the likelihood of future diseases: based on the individual's genomic characteristics to assess the likelihood of future diseases: chronic diseases, hereditary cancers, .... Tests related to drug metabolism: the purpose of individualizing the drug and the dose used for each individual.
Các xét nghiệm cần được thực hiện tại cơ sở y tế có trang bị máy móc hiện đại
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