![]() For this prenatal genetic test, your doctor takes a tissue sample from the placenta. In this prenatal genetic test, your doctor inserts a thin, hollow needle through your abdominal wall and into your uterus to collect a small amount of amniotic fluid for testing. For some tests, a swab sample from the inside of your cheek is collected for genetic testing. For newborn screening tests, a blood sample is taken by pricking your baby's heel. A member of your health care team takes the sample by inserting a needle into a vein in your arm. What you can expectÄepending on the type of test, a sample of your blood, skin, amniotic fluid or other tissue will be collected and sent to a lab for analysis. However, this act does not cover life, long-term care or disability insurance. ![]() Under GINA, employment discrimination based on genetic risk also is illegal. In the United States, the federal Genetic Information Nondiscrimination Act of 2008 (GINA) helps prevent health insurers or employers from discriminating against you based on test results. So, before you have a genetic test, check with your insurance provider to see what will be covered. Not all health insurance policies pay for genetic testing. Having these conversations before testing can give you a sense of how your family might respond to your test results and how it may affect them. If you're being tested for a genetic disorder that runs in families, you may want to consider discussing your decision to have genetic testing with your family. Also, talk about your options, depending on the test results. Ask questions and discuss any concerns about genetic testing at that meeting. Then, talk with your doctor or a genetic counselor about your personal and family medical history to better understand your risk. How you prepareÄ«efore you have genetic testing, gather as much information as you can about your family's medical history. Discuss all risks and benefits of genetic testing with your doctor, a medical geneticist or a genetic counselor before you have a genetic test. Genetic testing can have emotional, social and financial risks as well. However, prenatal testing such as amniocentesis or chorionic villus sampling has a small risk of pregnancy loss (miscarriage). Blood and cheek swab tests have almost no risk. Generally genetic tests have little physical risk. DiGeorge syndrome (22q11.2 deletion syndrome).Embryos without abnormalities are implanted in the uterus in hopes of achieving pregnancy The embryos are screened for genetic abnormalities. Also called preimplantation genetic diagnosis, this test may be used when you attempt to conceive a child through in vitro fertilization. This type of genetic testing is important because if results show there's a disorder such as congenital hypothyroidism, sickle cell disease or phenylketonuria (PKU), care and treatment can begin right away. In the United States, all states require that newborns be tested for certain genetic and metabolic abnormalities that cause specific conditions. This is the most common type of genetic testing. ![]() Newer testing called cell-free DNA testing looks at a baby's DNA via a blood test done on the mother. Traditionally this is done looking at markers in blood or by invasive testing such as amniocentesis. Down syndrome and trisomy 18 syndrome are two genetic disorders that are often screened for as part of prenatal genetic testing. ![]() If you're pregnant, tests can detect some types of abnormalities in your baby's genes. If you have a particular health condition or disease, this type of genetic testing may help determine what medication and dosage will be most effective and beneficial for you. An expanded carrier screening test can detect genes associated with a wide variety of genetic diseases and mutations and can identify if you and your partner are carriers for the same conditions. If you have a family history of a genetic disorder - such as sickle cell anemia or cystic fibrosis - or you're in an ethnic group that has a high risk of a specific genetic disorder, you may choose to have genetic testing before having children. For example, this type of test may be useful for identifying your risk of certain types of colorectal cancer. If you have a family history of a genetic condition, getting genetic testing before you have symptoms may show if you're at risk of developing that condition. Presymptomatic and predictive testing.For example, genetic testing may be used to confirm a diagnosis of cystic fibrosis or Huntington's disease. If you have symptoms of a disease that may be caused by genetic changes, sometimes called mutated genes, genetic testing can reveal if you have the suspected disorder. Different types of genetic testing are done for different reasons: ![]() Genetic testing plays a vital role in determining the risk of developing certain diseases as well as screening and sometimes medical treatment. ![]()
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