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| - , . | -қ ә ң қ ғ қ қ ңң ғ ә. | Clinico-genealogical method - method based on analysis of pedigree of patients family aiming revealing genetic nature of disease. |
| , , , . | ұғ,ә қ . | -person, from whom begins drawing up pedigree, as a rule it is sick man. |
| . | -ғ-қ. | Siblings brothers and sisters. |
| , . | қ ә қ ң ә. | Cytogenetic method method of diagnosis of chromosomal diseases based on the analysis of patients karotype. |
| . | қ ә -ұқ қ ң ұ қ ә. | Biochemical method method of diagnosis genetic forms of metabolic diseases. |
| - , . | қ-қ ә Қ ә. | Molecular-genetic methods methods based on the analysis of DNA. |
| - , , . | қ ң ұқ қ ә ң ң қ қ қғ ә ң ү ө қ өң ү. | Genetic counseling - specialized type of medical care of patients and their relatives with genetic pathology aiming to prevent birth of children with inherited or congenital disorder. |
| - , . | ғ - ү ғғ ғ қ ғ ң қ қ. . | Preimplantation diagnosis -diagnosis of genetic diseases of a human embryo before implantation into the uterus, before the beginning of pregnancy. |
| . | ғғ ү ә қ ө қ ә. | Prenatal diagnosis methods of diagnosis of genetic disorders in pregnant women. |
| - , , , , . | - ұқң қ, ң ғ ә ү ә, қ ұқғ қ қ. | Alpha-fetoprotein - fetal protein found in the blood of the fetus, newborn, pregnant women and in amniotic fluid. |
| (100%) () , . | ұқ қ ң қ өң ә қ (ғ ), қң ғ ә (100%) ө. | Neonatal screening screening (analysis) of newborns based on testing of all (100%) newborns in population aiming early (preclinical) diagnosis, treatment and prevention of development of clinical signs of disease. |
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