Learn more about genetic testing for children and families
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Genetic analysis testing involves the testing of an individual’s DNA, in order to identify or isolate, specific gene or chromosomal changes that might determine an increased risk of developing a rare disease, or the presence of a rare disease.
Genetic analysis is a process by which an individual’s risk for developing a rare disease is assessed. The ultimate goal of genetic analysis is to understand more about an individual’s genetic health including whether they may be a carrier of a gene mutation, or at risk of developing a genetic syndrome themselves.
Genetic screening involves testing to identify changes in an individual’s genetic makeup. This might be identifying a gene or chromosomal change that might cause a rare disease, or a gene change that might make them the carrier.
There are several prenatal genetic tests that can help parents understand more about their child’s genetic health before they are born. Parents also have the option of carrier testing, either before or during a pregnancy, which will reveal whether the parents are themselves carriers of a specific gene or DNA mutation that might cause their child to be born with a specific genetic syndrome or not (depending on the particular gene mutation, and the mode of inheritance of the syndrome involved). Carrier genetic testing can identify syndromes such as Fragile X, Tay Sachs, and Cystic Fibrosis.
For many families, a rare disease diagnosis for a child will answer many questions, but at the same time raise so many more. A diagnosis may, in fact, signal the beginning of a journey into understanding more about their child’s condition, how it may affect their mental and physical development, how their child can be supported through their syndrome, and what impact this might have on the rest of the family.
Paternity testing is the process by which the DNA of a child, and their alleged biological father, are tested in order to determine if there is a match between the two. Each individual has their own unique DNA. However 50% of this DNA is derived from the birth Mother, and 50% from the biological Father. Paternity testing checks the DNA of both the child and the alleged biological father: if there is no match on two or more DNA spikes, then the tested male is not the biological father. If there is a match between all of the DNA probes, then the tested male is the biological father.
When planning a pregnancy after diagnosis, it is crucial to fully understand the cause of your first child’s genetic condition. Was their condition the result of a de novo gene mutation, or is it an inherited condition? If it is an inherited condition, how was it inherited- in an autosomal recessive or dominant pattern?
It may identify if an individual has a specific genetic condition, is at risk of developing a genetic condition, or if they are a carrier of a genetic mutation. Individuals or families may be referred for genetic analysis and then genetic testing for rare disease –