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However, if the mutation in the family is not known and there are no longer any living affected relatives, carrier testing can still be done but it will require analyzing the entire gene rather than looking for a specific mutation. CK levels are not generally reflective of disease process and are often higher in child and adolescent carriers than in adult female carriers.
CK levels also may be increased for reasons other than muscular dystrophy, such as strenuous activity or sickness. Muscle biopsies on carriers are generally avoided because they are invasive a biopsy requires removing a piece of muscle tissue so it can be studied under a microscope and less accurate than genetic testing. Carrier testing is done on a blood or saliva sample.
There are different lab methods that can be used for carrier testing. If genetic testing was done in the past and no mutation was found, it might be appropriate to test the affected individual again using new and improved tests, which can identify more mutations.
Our process is simple: complete our application and receive all the information and paperwork needed to have genetic testing performed through our designated laboratory, PerkinElmer Genetics.
Carrier testing should be offered to all at-risk adult women with a family history of Duchenne. In the past, carrier testing was generally not performed on children.
However, with increasing knowledge of the potential impact on carrier females, and with genetic testing in general becoming more prevalent, carrier testing on children and adolescents is now more common. For adolescents, it is important to consider their maturity and to provide adequate pre- and post-test counseling. Adolescent assent and parental consent should be obtained prior to carrier testing. If you are interested in carrier testing for a minor in your family, please speak with their doctor or a genetic counselor to review the pros and cons of testing.
The problem with this approach is that many people don't belong to distinct ethnic categories. Many people are mixed race, adopted, or simply can't be sure what ethnicity their ancestors were. So there's no good way of determining who's at risk for being a carrier of any particular mutation. Instead, you can choose to be screened for a wide range of disease mutations — more than instead of just the one or two you may be "at risk" for.
This approach is known as expanded carrier screening. If your caregiver doesn't offer you expanded screening, you can ask for it. If you opt to be screened, you'll be asked to give a blood or saliva sample. If you're found to be a carrier, your partner will be screened as well. Or both partners may be screened at the same time to get the results faster. You should be given the option of talking with a genetic counselor before the screening and after you get your results. This person can help you understand your results and your options for planning your family.
You might also consider consulting a medical geneticist, a doctor who is specially trained and board certified in genetics. The American College of Medical Genetics and Genomics offers an online tool for finding genetic services.
The cost of carrier screening has declined dramatically in recent years, thanks to advances in technology. Since carrier screening is a recommended part of preconception and prenatal care, it's sometimes covered by insurance. On the other hand, some insurance companies consider the testing optional and don't cover it. Out-of-pocket costs vary, but they're typically not more than a few hundred dollars, even without insurance.
If you find out before you're pregnant, you may decide to try artificial insemination with sperm from a donor who is not a carrier. Another option is to have in vitro fertilization , with special testing of the embryo before it's implanted.
This testing is known as preimplantation genetic diagnosis and many insurance companies are now covering it. Some couples decide to adopt a child instead or not to have children at all. Unfortunately, many women are not offered carrier screening until they're pregnant. If you're already pregnant and want carrier screening, it should be done as early as possible in your pregnancy.
This will give you time to talk to a genetic counselor about the possibility that your baby has one of these disorders and figure out whether you want to have diagnostic testing like CVS or amniocentesis to find out.
It's important to understand that CVS and amniocentesis won't automatically tell you whether your child has this kind of genetic disorder.
You have to have the carrier screening first so you know what mutation you and your partner have and can ask the testing center to look for it. Early screening may have other advantages. For some diseases, knowing your baby is affected before birth makes it more likely that your child can be helped by early treatment. It allows you to line up the right medical specialists, who can be on hand to start treating your child after delivery. Below is more information on some of the more common genetic conditions that carrier screening tests for.
Cystic fibrosis CF is a life-threatening genetic disease. People with CF are prone to breathing difficulties including lung infections and severe lung damage , digestive problems, and other complications. People at high risk include Caucasians and people who have a relative who has CF or who is known to be a carrier. One in 29 Caucasians carries an abnormal cystic fibrosis gene, compared to 1 in 46 Hispanic Americans, 1 in 61 African Americans, and 1 in 90 Asian Americans.
Because CF is one of the most common genetic disorders, the American College of Obstetricians and Gynecologists ACOG recommends that all women be offered genetic testing for some CF mutations as part of routine prenatal planning.
If you carry the trait, your partner will be offered screening as well. Among Caucasians, the chance that both parents are carriers is 1 in If you and your partner are both carriers, the odds are 1 in 4 that your baby will have CF.
Carriers often do not know that they have a gene for a disorder. They usually do not have symptoms or have only mild symptoms. If both parents are carriers of a recessive gene for a disorder, there is a 25 percent 1-in-4 chance that their child will get the gene from each parent and will have the disorder.
There is a 50 percent 1-in-2 chance that the child will be a carrier of the disorder—just like the carrier parents. If only one parent is a carrier, there is a 50 percent 1-in-2 chance that the child will be a carrier of the disorder.
Carrier screening involves testing a sample of blood, saliva, or tissue from the inside of the cheek. Test results can be negative you do not have the gene or positive you do have the gene. Typically, the partner who is most likely to be a carrier is tested first. If test results show that the first partner is not a carrier, then no additional testing is needed. If test results show that the first partner is a carrier, the other partner is tested.
Once you have had a carrier screening test for a specific disorder, you do not need to be tested again for that disorder. Some people decide to have carrier screening before having children. Carrier screening also can be done during pregnancy.
Getting tested before pregnancy gives you a greater range of options and more time to make decisions. Carrier screening is your choice. You can choose to have carrier screening, or you can choose not to. There is no right or wrong choice. Some of these disorders occur more often in certain races or ethnic groups. For example, sickle cell disease often affects people of African descent. But anyone can have one of these disorders. They are not restricted to these groups. All women who are thinking about getting pregnant or who are already pregnant are offered carrier screening for cystic fibrosis, hemoglobinopathies , and spinal muscular atrophy SMA.
You can have screening for additional disorders as well. There are two approaches to carrier screening for additional disorders: 1 targeted screening and 2 expanded carrier screening. In targeted carrier screening, you are tested for disorders based on your ethnicity or family history. If you belong to an ethnic group or race that has a high rate of carriers for a specific genetic disorder, carrier screening for these disorders may be recommended.
This also is called ethnic-based carrier screening. If you have a family history of a specific disorder, screening for that disorder may be recommended, regardless of your race or ethnicity. In expanded carrier screening, many disorders are screened using a single sample. This type of screening is done without regard to race or ethnicity. Companies that offer expanded carrier screening create their own lists of disorders that they test for.
This list is called a screening panel. Some panels test for more than different disorders.
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