Learn more about genetic testing for children and families
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Genetic diagnosis for rare diseases is a process, sometimes also referred to as a diagnostic journey. The process aims to find answers for patients, either about their genetic health, their risk for developing a rare disease, or which specific rare disease they might be at risk for. Genetic diagnosis for rare diseases is a multi-step […]
DNA diagnosis, or genetic testing, is a form of screening that can identify changes or mutations in an individual’s gene that may in turn cause a rare disease or genetic syndrome. DNA, or deoxyribonucleic acid, is a molecule found within all of the body’s genes. DNA contains instructions for each of our cells to do […]
Genetic diagnosis refers to the process by which an individual receives a diagnosis of a rare disease or genetic syndrome. This process can include several stages, including genetic analysis, genetic counseling, and genetic testing. In some cases, it may involve the ruling out of a rare disease altogether. Generally, a genetic diagnosis is confirmed through […]
The genetic diagnosis process is not an easy one to navigate. For many potential rare disease patients and their families, understanding the different stages of the process can help make it a less stressful experience. Genetic Counseling Genetic counseling should be the first step of the process, but it is not a stand-alone step. Genetic […]
Genetic health testing investigates an individual’s DNA, to identify genetic mutations or chromosomal changes that might trigger a rare disease in themselves or their future offspring. Diagnosis of a rare disease or syndrome Genetic testing can identify gene and/or chromosomal changes in a person’s DNA that might lead to a diagnosis of a specific rare […]
Genetic analysis testing involves the testing of an individual’s DNA, 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. There are many situations where genetic analysis testing might be recommended or happen: The process may vary according […]
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 analysis is […]
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. It aims to help an individual understand more about their genetic health, what this might be for their […]
Several prenatal genetic tests 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 […]