There is a lot of amazing information in your DNA about your health not only who you are now, but also what may happen to you in the future. Genetic testing has transformed the manner in which we perceive the peril of disease, familial conditions and family health trends. And so what exactly is genetic testing? It is a form of medical test that looks at your DNA to determine how it was changed or mutated to predispose you to a particular disease or to verify hereditary conditions. Be it genetic testing prior to conception to determine what you may be able to pass on to children, or to determine what you may be at risk of due to your genetic composition, DNA testing offers useful information that can be used to make critical medical choices.
What are the diseases, which are identifiable with the help of genetic testing?
Genetic testing is capable of identifying three primary types of diseases and health conditions. First, it detects single-gene disorders- those that are brought about by mutations in a single gene such as cystic fibrosis or sickle cell disease. Second, DNA testing can identify chromosomal disorders in which a complete chromosome or a large piece of a chromosome is affected, e.g. Down syndrome. Third, genetic testing will gauge your susceptibility to multifactorial diseases- diseases that are affected by a combination of multiple genes with environmental elements, such as heart disease or diabetes. How is genetic testing the most powerful? It also informs people prior to the onset of symptoms so that they can make informed healthcare choices, seek preventive interventions, or plan in advance against possible health difficulties. Professional genetic testing services by Choice DNA assists their clients in knowing their genetic health environment with accuracy and confidentiality.
The process of Genetic Mutations Identification.
The identification of genetic mutations has been achieved by using advanced laboratory testing on your DNA sample, in many cases, it is a simple cheek swab or a blood draw. The scientists analyze certain genes that are identified to be related to certain diseases and seek variations or mutations in the normal course of DNA. The most advanced sequencing technology reads your genetic code letter by letter, and the comparison is done against the reference genomes in order to identify the differences. Others have small single-letter mutations, whereas other mutations entail deletion, duplication, or recombination of portions of the DNA. In cases of disease-related mutations, laboratory specialists assess the significance of these mutations as harmful, benign or of an uncertain value. This elaborate examination should be carried out with special knowledge and certified laboratory conditions to give precise and dependable outcomes.
What are the genetic diseases that are inherited and can be detected using DNA?
DNA testing is able to detect hundreds of inherited genetic disorders which are passed on through the family lines between children and parents. The causes of these conditions are related to a particular mutation of the genes that is inherited by one or both parents. Prenatal genetic testing serves to aid potential parents in realizing what they may be carrying, and potentially having a high probability of passing to their children, even when they are not showing any such conditions. A large number of individuals are genetic carriers of conditions, one of the mutated gene copies, but they are healthy due to the presence of the other copy of the gene that is functional. Nevertheless, when the same recessive genetic disorder occurs in both parents, children get the likelihood of inheriting the mutated copy of the disease in 25 percent. Choice DNA is an extensive genetic testing that determines carrier status of most inherited diseases.
Diseases Transmitted Genetically.
- Cystic Fibrosis
- Sickle Cell Disease
- Thalassemia
- Tay-Sachs Disease
- Huntington’s Disease
- Hemophilia
- Muscular Dystrophy
- Fragile X Syndrome
- Phenylketonuria (PKU)
- Spinal Muscular Atrophy
What are some genetic risk factors of common hereditary diseases?
- Diabetes Type 2: Insulin production and glucose metabolism genetic variants.
- Heart Disease: Mutations that affect the cholesterol levels, blood pressure and cardiovascular functions.
- Alzheimer Disease: APOE genotype variants linked to the risk of dementia.
- Obesity: The genetic influences on metabolism, appetite, as well as fat storage.
- Osteoporosis: Genes that affect the bone density and calcium uptake.
- ARMD: Genetic variations in eye health and vision.
- Celiac Disease: HLA gene variants that are susceptible to gluten sensitivity.
Which cancers are associated with cause as due to genetic mutations as detected by testing?
Genetic tests can reveal inherited mutations which play a significant role in enhancing the risk of cancer although the majority of cancers are not inherited but rather result due to random mutations that arise throughout the lifetime of a human. Around 5-10 percent of the cancers are familial and these are caused by mutations of the genes that are inherited. In case you have a family history of an early occurrence or more than one cancer, DNA testing can provide very important knowledge on the screening and prevention of cancer. The genetic testing services offered by Choice DNA make you directly linked to the extensive cancer risk evaluation.
Malignant Familial Tissues.
- BRCA1 and BRCA2 mutation: Breast and ovarian cancer.
- Lynch Syndrome: Colorectal, endometrial and others.
- Li-Fraumeni Syndrome: Various types of cancer such as brain tumor and sarcomas.
- Familial Adenomatous Polyposis (FAP): Colorectal cancer.
- PTEN Hamartoma Tumor Syndrome: Breast, thyroid, and endometrial cancer.
- Von Hippel-Lindau Disease: Tumors of the kidneys and others.
- Multiple Endocrine Neoplasia: endocrine and thyroid cancer.
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Conclusion
The knowledge about what diseases may be identified with the help of genetic testing will enable you to be more in charge of your future health. We offer professional genetic testing services at Choice DNA which bring out significant health information concealed in your DNA. Be it genetic testing prior to pregnancy or the urge to know the risks of your inherited diseases or even wanting to know your ancestry to determine your heritage, we have a team of seasoned individuals who will provide you with accurate and confidential information that you can rely on.
