What diseases can genetic testing help diagnose?

Genetic testing can help diagnose many different diseases, both hereditary and sporadic. Examples of diseases that can be diagnosed through genetic testing include: 1. Hereditary diseases: Genetic testing can help identify genes or mutations that are responsible for inheriting diseases such as cystic fibrosis, muscular dystrophy, hemophilia, Down syndrome, Turner syndrome, polycystic ovary syndrome, and many others. 2. Genetically inherited cancers: Genetic testing can help identify genetic mutations that increase the risk of developing genetically inherited cancers, such as breast cancer, ovarian cancer, colorectal cancer, pancreatic cancer, and others. This can aid in the early detection of these cancers and in monitoring the risk of cancer development in other family members. 3. Rare diseases: Genetic testing can help identify the cause of rare genetic diseases that are difficult to diagnose using traditional diagnostic methods. For example, genetic testing can help diagnose Sturge-Weber syndrome, Marfan syndrome, Ehlers-Danlos syndrome, and many others. The cost of genetic testing may vary depending on the type of test, the number of genes analyzed, and the country in which the tests are conducted. It is generally an expensive test, but many countries offer financial support or reimbursement for individuals who meet certain criteria. Genetic testing can provide a wealth of information, such as: - The presence of genetic mutations associated with hereditary diseases. - The risk of developing genetic diseases. - Information about inheriting physical traits, such as eye color or facial shape. - Information about potential reactions to medications. - The possibility of diagnosing future heirs with hereditary diseases. Personally, neither I nor any of my close relatives have undergone such genetic testing, but I know that the procedure typically involves collecting a blood sample or other genetic material (e.g., saliva) from the patient. Then, this material is analyzed in a laboratory to identify genes or mutations that may be the cause of a disease or genetic dysfunction.

In the diagnosis of various diseases can help: a) Genetically inherited diseases: - Monogenic diseases: These are diseases caused by a single faulty gene. Examples include cystic fibrosis, muscular dystrophy, Down syndrome. - Polygenic diseases: In this case, multiple genes contribute to the risk of disease, such as type 2 diabetes, heart disease. b) Genetically inherited cancers: - Genetic testing can identify mutations that increase the risk of cancer, such as mutations in the BRCA1 and BRCA2 genes that increase the risk of breast and ovarian cancer. c) Neurodegenerative diseases: - In the case of diseases such as Alzheimer's disease or Huntington's disease, genetic testing can provide information about genetic predispositions. d) Metabolic diseases: - Genetic testing can help diagnose metabolic diseases such as phenylketonuria or hemochromatosis. e) Autoimmune diseases: - Some genetic tests can identify genes associated with predispositions to autoimmune diseases such as systemic lupus erythematosus or celiac disease.

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Genetic tests can help diagnose diseases such as hemophilia, cystic fibrosis, sickle cell anemia, Down syndrome, Turner syndrome, Williams syndrome, Klinefelter syndrome, as well as cancer. Genetic testing allows not only to identify the risk group for genetic diseases, but also to determine health predispositions, including prenatal ones, or to exclude the presence of suspected mutations. The cost of the tests varies depending on the number of genes tested, the diagnostic methods used, and the laboratory itself. Some tests can cost even a few thousand Polish zloty. A personal genetic test was performed for lung cancer. The gene being tested was CHECK2. The test was performed based on samples of venous blood.

Genetic tests can help diagnose or identify the risk of developing many genetic diseases or diseases associated with genetic predisposition. Here are a few examples of diseases for which genetic testing can be helpful: Autosomal Dominant Inherited Diseases: Genetic tests can help identify genetic mutations associated with autosomal dominant inherited diseases, such as neurofibromatosis, myotonic dystrophy, or Marfan syndrome. Autosomal Recessive Inherited Diseases: Genetics can be used to identify genetic mutations associated with autosomal recessive inherited diseases, such as cystic fibrosis, phenylketonuria, or sickle cell anemia. X-Linked Diseases: Genetic testing can help diagnose diseases associated with the X chromosome, such as Duchenne muscular dystrophy or hemophilia. Cancer: Genetic tests can identify gene mutations that increase the risk of developing cancer, such as mutations in the BRCA1 and BRCA2 genes associated with breast and ovarian cancer. Neurodegenerative Diseases: In the case of neurodegenerative diseases, such as Huntington's disease or Alzheimer's disease, genetic testing can help identify genes associated with disease risk. Metabolic Diseases: Genetic testing can also reveal mutations associated with metabolic diseases, such as phenylketonuria, monogenic diabetes, or porphyria. Genetically Determined Diseases: Genetic testing is also used in the diagnosis of genetically determined diseases, such as Down syndrome, Turner syndrome, or Edwards syndrome.