Genetic Carrier Screening
Why should I undergo genetic carrier screening?
Genetic carrier screening helps a person find out his or her individual and family risk of developing a genetic condition, or more about a particular genetic condition, and appropriately prepare oneself for the future. Common genetic conditions include Tay-Sachs and cystic fibrosis. Anyone can be a carrier of a genetic condition. In the absence of a family history of a genetic disease, a carrier screening tests helps detect the possibility of transferring a genetic condition to your offspring.
Is it necessary to get screened?
Getting a genetic carrier screening is done as a personal choice.
What will the tests screen for?
The test can either screen for a particular genetic condition, a range of conditions based on ancestry or even a broader panel of more than 100 conditions. This is based on your personalized choice.
When do I need to be screened?
The genetic carrier screening can be performed anytime. However, for reproductive purposes, it needs to be performed before pregnancy.
Can the screening tests be performed in children too?
No, carrier screening is not required in children as carrying a genetic condition does not lead to or influence any childhood diseases. National committees such as the American College of Medical Genomics and Genetics recommend genetic screening in children when the results of the tests can add value to the child’s care.
What is the cost of genetic screening?
Cost depends upon where you are going to perform the test. Various organizations ensure that cost does not limit people from pursuing the tests.
How long will it take to obtain the screening results?
Results are generally available within 7-10 business days from when the sample is collected.
What is the next step to be taken if I am a carrier?
The immediate step to take is to get your partner screened as well to determine your increased risk as a couple to have a child with a genetic condition. Next, is to inform your family members, so that they are aware and can choose to get themselves tested as well. If your test comes back positive for the genetic condition or shows a probable risk of developing it, you will be further evaluated to help design a suitable treatment plan.
What is the success rate?
Among the 20,000 genes present in each cell, genetic carrier screening tests screen for mutations in one to hundreds of genes; so although it gives a lot information about common genetic disorders, it cannot examine your entire genetic make-up.
Who can access the results?
Patients and ordering providers have access to the screening results. Even insurance company can assess the results if its mentioned in the medical record.
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