Learn more about genetic testing for children and families
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Genetic testing plays a crucial role in resolving the complexities of developmental and genetic disorders in children. By examining DNA, these tests provide insights into genetic variations that could influence a child’s health or development. Being aware of the various types of genetic tests available allows parents and healthcare providers to make informed decisions. Let’s dive into some […]
Genetic testing involves the screening of an individual’s DNA and genetic information, in order to learn more about their genetic health. Genetic testing may – Identify if an individual is a carrier for a genetic or chromosomal mutation or change
Genetic testing is a process that usually involves sampling an individual’s DNA, including their genetic and chromosomal information, in order to understand if they are the carrier of a genetic mutation that might cause a rare disease in themselves or their children. It can also identify if someone is at risk of developing a rare disease due to an identified gene mutation or change, or if someone actually has a rare disease or genetic syndrome.
Preconception genetic testing is testing which takes place before a couple decides to conceive. There are two main types of preconception genetic testing- carrier screening and preimplantation screening. The aim of the carrier testing is to understand more about the genetic health of the parents, and what this might mean for the health of their children-to-be in the context of rare diseases.
Turner syndrome is a rare disease known only to affect females. The exact prevalence of the syndrome is unknown, but it is believed to occur in every 1 in every 2,000 females born. Symptoms of the syndrome include a short stature, congenital heart defects, and a failure of the reproductive issues to develop.
Trisomy 13 is caused when a person has three copies of chromosome 13 instead of the normal two. There are three types of this rare disease, each type is caused by variations in the third copy of chromosome 13. The syndrome is not usually inherited, and most usually the result of spontaneous chromosomal changes. In some cases it may be caused by an inherited chromosomal event known as translocation.
Marfan syndrome is both a connective tissue disorder, and a congenital disorder, meaning present at birth, but the full range of its symptoms do not often develop until later into childhood, or even early adulthood in some cases.
It is a rare connective tissue disorder. There are several main types of the syndrome, each varying in their severity and cause. EDS Classic/Musculocontractural Type 1 and Type 2 This is not the most common form of the syndrome. It is slightly more severe than the most common form of this rare disease, as it presents with additional symptoms, including fragile and stretchy skin, and possible heart issues. This form of the syndrome is caused by mutations in the
Angelman syndrome is a rare disease, affecting around 500,000 people around the world. It is one of the more common, of the rare diseases, occurring in around 1 in every 15,000 live births in the US. The main symptoms of the syndrome include developmental delay, sleep disturbances, and seizures.