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

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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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