Learn more about genetic testing for children and families
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Genetic testing is a huge and increasingly popular trend. With its current higher visibility, much reduced price tag, and better science to back it up, more and more people are finding they have access to a very diverse array of genetic testing based information. New companies spring up every day, but not all genetic testing companies are created equal. There are several considerations you will want to take into account.
The human genome, described below, is the sum total of all the component genes in the body. It is the code and a major part of the operating system for the human body. If something has gone wrong in the genome, or is likely to, it is best to know about it sooner rather than later. Genetic screening tests and genetic health testing can identify and single out changes in genes and their main components: strands of DNA, chromosomes, or proteins.
There are currently over 7,000 identified rare genetic disorders. In theory each of these can be detected by genetic screening, however knowing which rare disease you are looking for, can greatly enhance the accuracy of genetic testing.
Diagnosis of a rare disease can take two main forms. A diagnosis can confirm that an individual is a carrier for a specific genetic mutation or chromosomal change, and at risk of developing a genetic syndrome themselves, or at risk of passing the mutation on to their future children.
It is not possible without the support of genetic experts, including genetic counselors and geneticists. When it comes to understanding how to diagnose a rare disease, genetic counseling and genetic testing, are essential services.
Genetic diagnosis a definition Improving genetic diagnosis means ensuring rare disease patients receive a timely, and accurate diagnosis for a rare disease. On average, rare disease patients can spend between 6-7 years
Carrier screening Genetic carrier screening is one of the most common genetic tests. It is often recommended to couples who are thinking about starting a family, and in some countries it is often a part of standard preconception testing and preparation.
It is a form of genetic testing which identifies duplicate or extra parts of chromosomes, or missing and deleted chromosomal parts. This includes chromosomal microdeletions and microduplications involving multiple genes, chromosomal conditions involving a chromosome number (Down syndrome is one of these), and translocations, where the chromosomal structure is unbalanced or rearranged.
What is genetic screening? Genetic carrier screening is a type of testing that can identify if an individual carries a gene mutation which might in turn cause specific genetic syndromes or rare diseases. It provides individuals with important information about their own genetic health, and can also help them to understand the genetic health of their future children. Generally it is carried out either before marriage or pregnancy, but can be carried out at any point during an individual’s life. As greater awareness about rare diseases, and their causes, grows, so the demand for carrier screening increases too.