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What is a genetic test, diagnostic testing, carrier testing, and predictive testing?

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2 fertility expert(s) answered this question

Answer from: Maria José Mendiola, MD, MSc in Human Genetics, MSc in Science Communication, ObGyn

Gynaecologist, Gynaecologist in Reproductive Medicine & Reproductive Genetics
Clínica Monterrico
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Genetic tests or testing is a type of medical test that identifies changes in genes chromosome proteins so the results of a genetic test can confirm a suspected genetic condition or help determine a person’s change of developing or passing on a genetic disorder and genetic test involves looking for changes in genes chromosomes proteins, looks for changes sometimes called mutations in our DNA. Genetic testing is useful in many areas of medicine and can change the medical care that your family could receive, so it is important that genetic tests are done using a blood or a skin sample. Our results are usually ready in a few weeks so generic counseling before and after genetic testing can help make sure that you are the right person in your family to get a genetic test, you are getting the right genetic tests and that you understand your results so, it is important to have a genetic test to learn whether you have genetic conditions that runs in your family before you have symptoms, to learn about the chance of current or future pregnancy will have a genetic condition, to diagnose condition if your child has symptoms, to guide your cancer probation or treatment plan. So these are the following ways that we could use genetic tests but in case of diagnostic genetic testing it identifies whether an individual has certain genetic diseases, this test it detects a specific gene alteration that is often not able to determine the severity or age of onset. There’s thousands of diseases circled by a mutation in a single gene, for example, Huntington’s disease, cystic fibrosis, so in this case on another point that is important is that we can perform a genetic carrier screening. The difference in this genetic career is training is that it is a medical test that can determine whether you or your partner is a carrier for say certain genetic diseases and odds that your child will inherit them, for example, if you are a carrier, that means that your DNA contains a genetic mutation that’s associated or linked with a disease even though you may not have the condition yourself, for example, if both, you a partner are carriers and you will pass the genetic mutation along to your baby they may be within them with the disease so, a genetic carrier has two sets of genes- one from a mom or one one from dad, when the sperm fertilizes an egg those two sets of DNA combine two main and you make sure the unique genome of their baby so, a genetic disease is when a gene from one or both parents contains habitations a chance from the usual which could make a baby more prone to developing certain health conditions. So it is important to point out this and finally in case of predictive genetic testing that is different. It determines whether an individual has an increased risk for a particular disease, does result in decay probability and therefore less definitive scenes disease susceptibility may also be influenced by other genetic and non-genetic environmental factors. Diseases that can be identified include, for example, certain forms of breast cancer, ovarian cancer or colorectal cancer.

Answer from: Douglas Lester, PhD, MSc, BSc (Hons)

Geneticist, Co-Founder & Chief Scientific Officer
Fertility Genomics
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A carrier screening genetic test is usually a DNA test that will indicate whether you and your partner carry mutations on a single chromosome, for usually a severe genetic disorder, such as cystic fibrosis. 1 in 30 people of Northwest European descent are carriers of severe DNA mutation in their cystic fibrosis gene. This means 1 in 900 couples are at risk of having a cystic fibrosis child. Still, they can undergo pre-implantation diagnosis if they do IVF. They can remove one or two cells from each embryo without affecting the embryo and test the DNA. Only implant embryos that have not inherited the cystic fibrosis gene or just inherited one of it.

Genetic testing is straightforward. If it’s recessive, you’re testing for carriers; you can do pre-implantation diagnosis, and so on. Diagnostic testing that covers non-genetic factors or all the sperm fragmentation assay is a diagnostic assay that determines if a lot of the sperm chromosomes are fragmenting. That’s diagnostic of a bad lifestyle of the man, too much alcohol and smoking, so that would be a diagnostic test.

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Various types of tests - what are they for?

Genetic tests, diagnostic testing, carrier testing, and predictive testing – there are different types of tests that are helpful in diagnosing infertility, diseases, and seeking solutions to avoid genetic conditions in offspring.

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