Through genetic testing your doctor can identify inherited conditions and the probability of developing the condition or passing along the genetic disorder. According to the U.S. Library of Medicine, there are currently several hundred of these tests. Genetic testing uses a blood sample, skin, hair, amniotic fluid or some other type tissue.
Types of Tests
There are a number of types of genetic testing available. They include prenatal testing and newborn screening to determine birth defects and disorders, diagnostic testing to confirm or rule out a condition, carrier testing to find out if a faulty gene is present in both parents, preimplantation testing to testing embryos prior to being implanted in your uterus, predictive and presymptomatic testing to identify risks of disorders and forensic testing, used for legal purposes to identify a person.
Results
It may take anywhere between a few weeks and months to get your results. When you receive a positive test result it indicates that a change was found in a gene, chromosome or protein. It may determine that you are a carrier, have an increased risk of a specific disease or that you may need further testing. A negative result indicates that there was no change and that you do not have the disorder, that you are not a carrier or that you are not at a high risk of developing the particular disease.
Cost
Genetic testing may cost between $100 or less and $2000. The more complicated the test, the higher the cost. In addition, if more than one member of your family is being tested, the cost is increased. Newborn screening may cost between $15 and $60, but this varies by state. Many health insurances pay for genetic testing if your physician recommends it. However, insurance companies have policies regarding what is and is not covered. Prior to your test you should contact your insurance carrier to determine the level of coverage.
Diseases
There are many diseases that can be identified through genetic testing. They include cystic fibrosis, Tay-Sachs disease, retinoblastoma (childhood eye cancer), adenomatous polyposis (precancerous polyps) and Wilms' tumor (kidney cancer in young children). In addition, identification of Li-Fraumeni syndrome involves the possibility of sarcomas of the tissue or bones of arms and legs, acute leukemia, brain tumors and breast cancer. Tests are also in development for other disorders such as amyotropic lateral sclerosis (Lou Gehrig's disease), some type of Alzheimer's and Huntington's disease, which can result in dementia and death.
Benefits
The benefits of genetic testing can offer you some relief if you have concerns about certain inherited diseases. It may aid you in your decision regarding having babies. In addition, if you receive a positive result it can guide your decisions regarding prevention and treatment.
Limitations and Risks
Limited information is provided by having a genetic test. It cannot predict if you will have symptoms of a particular disorder, the severity or whether it will be progressive. There is a risk of emotional issues when you receive a positive result. There may also be financial concerns as a result of genetic discrimination in regard to your work or insurance coverage. The National Human Genome Research Institute offer information regarding genetic discrimination and laws about this concern.
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